Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism
Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five genome-wide nonparametric linkage analyses and a genome-wide association study to identify susceptibility loci of the phenotype have shown inco...
Saved in:
| Published in: | Bone (New York, N.Y.) Vol. 122; pp. 193 - 198 |
|---|---|
| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Elsevier Inc
01-05-2019
|
| Subjects: | |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Abstract | Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five genome-wide nonparametric linkage analyses and a genome-wide association study to identify susceptibility loci of the phenotype have shown inconsistent results. To explore variants related to mandibular prognathism, we undertook whole-exome sequencing in a Japanese pedigree. The pedigree was ascertained as mandibular prognathism. The pedigree comprised 15 individuals from 4 generations. Four affected individuals across 2 generations and 5 unaffected individuals were chosen for whole-exome sequencing. Five non-synonymous single-nucleotide variants (SNVs) of UBASH3B, OR6M1, OR8D4, OR8B4, and BEST3 genes were detected in all 4 affected individuals, but in none of the 5 unaffected individuals. A non-synonymous SNV of the BEST3 gene, Chr12(GRCh37):g.70048878G>T, NM_032735.2:c.1816C>A, p.(L606I), was identified as rare missense variant. BEST3 is located on chromosome 12q15 and encodes bestrophin 3 from the bestrophin family of anion channels. The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree.
•Whole-exome sequencing in a Japanese pedigree with mandibular prognathism was done.•Five non-synonymous single-nucleotide variants (SNVs) were identified.•A non-synonymous SNV (p.L606I) of BEST3 gene was a novel missense variant.•The sequencing implicates the variant as a candidate for mandibular prognathism. |
|---|---|
| AbstractList | Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five genome-wide nonparametric linkage analyses and a genome-wide association study to identify susceptibility loci of the phenotype have shown inconsistent results. To explore variants related to mandibular prognathism, we undertook whole-exome sequencing in a Japanese pedigree. The pedigree was ascertained as mandibular prognathism. The pedigree comprised 15 individuals from 4 generations. Four affected individuals across 2 generations and 5 unaffected individuals were chosen for whole-exome sequencing. Five non-synonymous single-nucleotide variants (SNVs) of UBASH3B, OR6M1, OR8D4, OR8B4, and BEST3 genes were detected in all 4 affected individuals, but in none of the 5 unaffected individuals. A non-synonymous SNV of the BEST3 gene, Chr12(GRCh37):g.70048878G>T, NM_032735.2:c.1816C>A, p.(L606I), was identified as rare missense variant. BEST3 is located on chromosome 12q15 and encodes bestrophin 3 from the bestrophin family of anion channels. The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree. Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five genome-wide nonparametric linkage analyses and a genome-wide association study to identify susceptibility loci of the phenotype have shown inconsistent results. To explore variants related to mandibular prognathism, we undertook whole-exome sequencing in a Japanese pedigree. The pedigree was ascertained as mandibular prognathism. The pedigree comprised 15 individuals from 4 generations. Four affected individuals across 2 generations and 5 unaffected individuals were chosen for whole-exome sequencing. Five non-synonymous single-nucleotide variants (SNVs) of UBASH3B, OR6M1, OR8D4, OR8B4, and BEST3 genes were detected in all 4 affected individuals, but in none of the 5 unaffected individuals. A non-synonymous SNV of the BEST3 gene, Chr12(GRCh37):g.70048878G>T, NM_032735.2:c.1816C>A, p.(L606I), was identified as rare missense variant. BEST3 is located on chromosome 12q15 and encodes bestrophin 3 from the bestrophin family of anion channels. The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree. •Whole-exome sequencing in a Japanese pedigree with mandibular prognathism was done.•Five non-synonymous single-nucleotide variants (SNVs) were identified.•A non-synonymous SNV (p.L606I) of BEST3 gene was a novel missense variant.•The sequencing implicates the variant as a candidate for mandibular prognathism. |
| Author | Saito, Fumio Iida, Junichiro Mitsui, Jun Oka, Akira Kajii, Takashi S. |
| Author_xml | – sequence: 1 givenname: Takashi S. surname: Kajii fullname: Kajii, Takashi S. email: takkajii@mac.com organization: Section of Orthodontics, Department of Oral Growth and Development, Fukuoka Dental College, 2-15-1 Tamura, Sawara-ku, Fukuoka 814-0193, Japan – sequence: 2 givenname: Akira surname: Oka fullname: Oka, Akira organization: Institute of Medical Sciences, Tokai University, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan – sequence: 3 givenname: Fumio surname: Saito fullname: Saito, Fumio organization: Department of Orthodontics, Division of Oral Functional Science, Graduate School of Dental Medicine, Hokkaido University, Kita 13 Nishi 7, Kita-ku, Sapporo 060-8586, Japan – sequence: 4 givenname: Jun surname: Mitsui fullname: Mitsui, Jun organization: Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 5 givenname: Junichiro surname: Iida fullname: Iida, Junichiro organization: Department of Orthodontics, Division of Oral Functional Science, Graduate School of Dental Medicine, Hokkaido University, Kita 13 Nishi 7, Kita-ku, Sapporo 060-8586, Japan |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30849546$$D View this record in MEDLINE/PubMed |
| BookMark | eNp9Uctu1TAUtFARvS38AAvkJZsEP_JwJDZQFVpUiQVFLC0_Tm59lTjBTirut_CznOgWlmxs2Wdm7Jm5IGdxikDIa85Kznjz7lBavCgF413JZMlY9YzsuGplIdpGnpGdauumkEKJc3KR84ExJruWvyDnkqmqq6tmR37_eJgGKODXNALN8HOF6ELc0xCpoV_MbCJkoDP4sE8ANIzzEJxZIOM4mQQU_1TkI67HcVozzUhGvbi6AaYleKCPJgUTl03x4_W3e0nNxnUm-uBRiPZTouN2sutgEp3TtI9meQh5fEme92bI8OppvyTfP13fX90Ud18_3159uCtcJcRScFDMemedd62rXN1UqhGqgtq2TnSsNQ04LmoGikuLk7prGtFX3trK2p738pK8Peni2xhAXvQYsoNhQPPoSQuuMKxWiRqh4gR1aco5Qa_nFEaTjpozvZWiD3orRW-laCY1loKkN0_6qx3B_6P8bQEB708AQJePAZLOLmARmHoCt2g_hf_p_wEcsaK1 |
| CitedBy_id | crossref_primary_10_1016_j_cellsig_2019_109424 crossref_primary_10_3168_jds_2023_23315 crossref_primary_10_1053_j_sodo_2024_05_010 crossref_primary_10_1007_s00784_020_03731_5 crossref_primary_10_1111_odi_14426 crossref_primary_10_3390_jcm12093212 crossref_primary_10_1016_j_genrep_2020_100647 crossref_primary_10_3390_ijms222313037 |
| Cites_doi | 10.1038/nature08250 10.1371/journal.pone.0012678 10.1177/0022034515589957 10.1038/915 10.1177/154405910508400309 10.1177/0022034515572190 10.1016/j.ajodo.2011.06.033 10.1177/0022034510382546 10.1101/gr.117259.110 10.1371/journal.pone.0096333 10.1093/hmg/7.9.1517 10.1111/j.1601-6343.2010.01485.x 10.1177/0022034513502790 10.1038/sj.ejhg.5200796 10.1177/0022034510375962 10.1038/srep11250 10.1016/j.ajodo.2017.01.021 10.1016/0002-9416(53)90082-7 10.1016/j.ajodo.2014.01.022 10.1093/nar/gkq603 10.1177/0022034511416668 10.1038/ncomms9018 10.1016/0002-9416(69)90036-0 10.1073/pnas.0307882100 10.1093/ejo/19.4.361 10.1016/0889-5406(86)90041-7 10.1111/ocr.12083 10.1074/jbc.M403759200 10.1016/j.joca.2016.05.019 10.1016/j.archoralbio.2010.07.018 10.1002/(SICI)1098-2353(1999)12:5<382::AID-CA9>3.0.CO;2-0 10.1016/0006-291X(92)91601-L 10.1177/0022034508327817 |
| ContentType | Journal Article |
| Copyright | 2019 Elsevier Inc. Copyright © 2019 Elsevier Inc. All rights reserved. |
| Copyright_xml | – notice: 2019 Elsevier Inc. – notice: Copyright © 2019 Elsevier Inc. All rights reserved. |
| DBID | NPM AAYXX CITATION 7X8 |
| DOI | 10.1016/j.bone.2019.03.004 |
| DatabaseName | PubMed CrossRef MEDLINE - Academic |
| DatabaseTitle | PubMed CrossRef MEDLINE - Academic |
| DatabaseTitleList | PubMed |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Anatomy & Physiology |
| EISSN | 1873-2763 |
| EndPage | 198 |
| ExternalDocumentID | 10_1016_j_bone_2019_03_004 30849546 S8756328219300808 |
| Genre | Research Support, Non-U.S. Gov't Journal Article |
| GroupedDBID | --- --K --M .1- .55 .FO .GJ .~1 0R~ 1B1 1P~ 1RT 1~. 1~5 23N 4.4 457 4G. 53G 5GY 5RE 5VS 7-5 71M 8P~ 9JM AABNK AACTN AAEDT AAEDW AAIAV AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AAXUO ABBQC ABFNM ABGSF ABJNI ABLJU ABLVK ABMAC ABMZM ABUDA ABXDB ABYKQ ACDAQ ACGFS ACIUM ACRLP ADBBV ADEZE ADMUD ADUVX AEBSH AEHWI AEKER AENEX AEVXI AFCTW AFKWA AFRHN AFTJW AFXIZ AGHFR AGRDE AGUBO AGYEJ AHHHB AHPSJ AIEXJ AIKHN AITUG AJBFU AJOXV AJRQY AJUYK ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ANZVX ASPBG AVWKF AXJTR AZFZN BKOJK BLXMC BNPGV CS3 DOVZS DU5 EBS EFJIC EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-2 G-Q GBLVA HEB HMK HMO HVGLF HZ~ IHE J1W J5H K-O KOM L7B LCYCR M29 M41 MO0 N9A O-L O9- OAUVE OF0 OR. OZT P-8 P-9 P2P PC. Q38 R2- RIG ROL RPZ SAE SCC SDF SDG SDP SEL SES SEW SPCBC SSH SSU SSZ T5K WUQ X7M Z5R ZA5 ZGI ZMT ~02 ~G- AAXKI AFJKZ AKRWK NPM AAYXX CITATION 7X8 |
| ID | FETCH-LOGICAL-c422t-1e80bdcbcdc7c4c56486284e5b7c2907a6ec1250e813b62859662f4dbb4bbf1f3 |
| ISSN | 8756-3282 |
| IngestDate | Fri Oct 25 06:39:28 EDT 2024 Thu Sep 26 18:31:24 EDT 2024 Sat Sep 28 08:31:46 EDT 2024 Fri Feb 23 02:22:11 EST 2024 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Keywords | GWAS SNP ANB PDGF Whole-exome sequencing Genetics Mandibular prognathism SNV Bestrophin 3 Endochondral growth Japanese EGFR |
| Language | English |
| License | Copyright © 2019 Elsevier Inc. All rights reserved. |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c422t-1e80bdcbcdc7c4c56486284e5b7c2907a6ec1250e813b62859662f4dbb4bbf1f3 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
| PMID | 30849546 |
| PQID | 2189547825 |
| PQPubID | 23479 |
| PageCount | 6 |
| ParticipantIDs | proquest_miscellaneous_2189547825 crossref_primary_10_1016_j_bone_2019_03_004 pubmed_primary_30849546 elsevier_sciencedirect_doi_10_1016_j_bone_2019_03_004 |
| PublicationCentury | 2000 |
| PublicationDate | May 2019 2019-05-00 20190501 |
| PublicationDateYYYYMMDD | 2019-05-01 |
| PublicationDate_xml | – month: 05 year: 2019 text: May 2019 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States |
| PublicationTitle | Bone (New York, N.Y.) |
| PublicationTitleAlternate | Bone |
| PublicationYear | 2019 |
| Publisher | Elsevier Inc |
| Publisher_xml | – name: Elsevier Inc |
| References | Perillo, Monsurrò, Bonci (bb0105) 2015; 94 Saito, Kajii, Oka (bb0085) 2017; 152 Wang, Li, Hakonarson (bb0115) 2010; 38 Stöhr, Marquardt, Nanda (bb0170) 2002; 10 Li, Zhang, Li (bb0065) 2010; 5 Malnic, Godfrey, Buck (bb0130) 2004; 101 Björk (bb0140) 1969; 55 Guan, Song, Ott (bb0075) 2015; 94 Cruz, Hartsfield, Falcão-Alencar (bb0050) 2011; 90 Yamaguchi, Park, Narita (bb0035) 2005; 84 Xue, Wong, Rabie (bb0020) 2010; 13 Kajii, Okamoto, Yura (bb0145) 2005; 19 Li, Li, Zhang (bb0070) 2011; 90 Nakasima, Ichinose, Nakata (bb0015) 1986; 90 Tassopoulou-Fishell, Deeley, Harvey (bb0060) 2012; 141 Marquardt, Stöhr, Passmore (bb0160) 1998; 7 Petrukhin, Koisti, Bakall (bb0165) 1998; 19 Steiner (bb0110) 1953; 39 Kumagai, Toyoda, Staunton (bb0175) 2016; 24 Tschill, Bacon, Sonko (bb0010) 1997; 19 Ikuno, Kajii, Oka (bb0080) 2014; 145 Nikopensius, Saag, Jagomägi (bb0095) 2013; 92 Nagasaki, Yasuda, Katsuoka (bb0120) 2015; 6 Verbeurgt, Wilkin, Tarabichi (bb0135) 2014; 9 Singh (bb0005) 1999; 12 Chen, Li, Gu (bb0100) 2015; 10 Kajii, Oka (bb0030) 2017; 2 Jang, Park, Ryoo (bb0040) 2010; 89 Kowanetz, Crosetto, Haglund (bb0150) 2004; 279 Moreno Uribe, Miller (bb0025) 2015 Li, Sidore, Kang (bb0125) 2011; 21 Frazier-Bowers, Rincon-Rodriguez, Zhou (bb0055) 2009; 88 Ng, Turner, Robertson (bb0090) 2009; 461 Kinoshita, Takigawa, Suzuki (bb0155) 1992; 183 Xue, Wong, Rabie (bb0045) 2010; 55 Marquardt (10.1016/j.bone.2019.03.004_bb0160) 1998; 7 Stöhr (10.1016/j.bone.2019.03.004_bb0170) 2002; 10 Kumagai (10.1016/j.bone.2019.03.004_bb0175) 2016; 24 Petrukhin (10.1016/j.bone.2019.03.004_bb0165) 1998; 19 Moreno Uribe (10.1016/j.bone.2019.03.004_bb0025) 2015 Saito (10.1016/j.bone.2019.03.004_bb0085) 2017; 152 Ng (10.1016/j.bone.2019.03.004_bb0090) 2009; 461 Malnic (10.1016/j.bone.2019.03.004_bb0130) 2004; 101 Cruz (10.1016/j.bone.2019.03.004_bb0050) 2011; 90 Li (10.1016/j.bone.2019.03.004_bb0065) 2010; 5 Björk (10.1016/j.bone.2019.03.004_bb0140) 1969; 55 Xue (10.1016/j.bone.2019.03.004_bb0045) 2010; 55 Kajii (10.1016/j.bone.2019.03.004_bb0030) 2017; 2 Frazier-Bowers (10.1016/j.bone.2019.03.004_bb0055) 2009; 88 Li (10.1016/j.bone.2019.03.004_bb0070) 2011; 90 Steiner (10.1016/j.bone.2019.03.004_bb0110) 1953; 39 Guan (10.1016/j.bone.2019.03.004_bb0075) 2015; 94 Singh (10.1016/j.bone.2019.03.004_bb0005) 1999; 12 Kinoshita (10.1016/j.bone.2019.03.004_bb0155) 1992; 183 Chen (10.1016/j.bone.2019.03.004_bb0100) 2015; 10 Kajii (10.1016/j.bone.2019.03.004_bb0145) 2005; 19 Yamaguchi (10.1016/j.bone.2019.03.004_bb0035) 2005; 84 Tassopoulou-Fishell (10.1016/j.bone.2019.03.004_bb0060) 2012; 141 Nakasima (10.1016/j.bone.2019.03.004_bb0015) 1986; 90 Jang (10.1016/j.bone.2019.03.004_bb0040) 2010; 89 Ikuno (10.1016/j.bone.2019.03.004_bb0080) 2014; 145 Wang (10.1016/j.bone.2019.03.004_bb0115) 2010; 38 Kowanetz (10.1016/j.bone.2019.03.004_bb0150) 2004; 279 Verbeurgt (10.1016/j.bone.2019.03.004_bb0135) 2014; 9 Nikopensius (10.1016/j.bone.2019.03.004_bb0095) 2013; 92 Perillo (10.1016/j.bone.2019.03.004_bb0105) 2015; 94 Li (10.1016/j.bone.2019.03.004_bb0125) 2011; 21 Nagasaki (10.1016/j.bone.2019.03.004_bb0120) 2015; 6 Xue (10.1016/j.bone.2019.03.004_bb0020) 2010; 13 Tschill (10.1016/j.bone.2019.03.004_bb0010) 1997; 19 |
| References_xml | – volume: 90 start-page: 53 year: 2011 end-page: 57 ident: bb0070 article-title: The identification of a novel locus for mandibular prognathism in the Han Chinese population publication-title: J. Dent. Res. contributor: fullname: Zhang – volume: 6 start-page: e8018 year: 2015 ident: bb0120 article-title: Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals publication-title: Nat. Commun. contributor: fullname: Katsuoka – volume: 19 start-page: 41 year: 2005 end-page: 46 ident: bb0145 article-title: Elevated levels of β-endorphin in temporomandibular joint synovial lavage fluid of patients with closed lock publication-title: J. Orofac. Pain contributor: fullname: Yura – volume: 90 start-page: 1202 year: 2011 end-page: 1205 ident: bb0050 article-title: Exclusion of Class III malocclusion candidate loci in Brazilian families publication-title: J. Dent. Res. contributor: fullname: Falcão-Alencar – volume: 5 start-page: e12678 year: 2010 ident: bb0065 article-title: Genome scan for locus involved in mandibular prognathism in pedigrees from China publication-title: PLoS One contributor: fullname: Li – volume: 88 start-page: 56 year: 2009 end-page: 60 ident: bb0055 article-title: Evidence of linkage in a hispanic cohort with a Class III dentofacial phenotype publication-title: J. Dent. Res. contributor: fullname: Zhou – volume: 55 start-page: 585 year: 1969 end-page: 599 ident: bb0140 article-title: Prediction of mandibular growth rotation publication-title: Am. J. Orthod. contributor: fullname: Björk – volume: 89 start-page: 1203 year: 2010 end-page: 1207 ident: bb0040 article-title: Polymorphisms in the publication-title: J. Dent. Res. contributor: fullname: Ryoo – volume: 94 start-page: 569 year: 2015 end-page: 576 ident: bb0105 article-title: Genetic association of publication-title: J. Dent. Res. contributor: fullname: Bonci – volume: 10 start-page: 281 year: 2002 end-page: 284. ident: bb0170 article-title: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family publication-title: Eur. J. Hum. Genet. contributor: fullname: Nanda – volume: 90 start-page: 106 year: 1986 end-page: 116 ident: bb0015 article-title: Genetic and environmental factors in the development of so-called pseudo-and true mesiocclusions publication-title: Am. J. Orthod. Dentofac. Orthop. contributor: fullname: Nakata – volume: 2 start-page: e1068 year: 2017 ident: bb0030 article-title: Candidate gene analyses of mandibular prognathism publication-title: J. Dent. Oral Biol. contributor: fullname: Oka – volume: 141 start-page: 51 year: 2012 end-page: 59 ident: bb0060 article-title: Genetic variation in publication-title: Am. J. Orthod. Dentofac. Orthop. contributor: fullname: Harvey – volume: 461 start-page: 272 year: 2009 end-page: 276 ident: bb0090 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature contributor: fullname: Robertson – volume: 9 start-page: e96333 year: 2014 ident: bb0135 article-title: Profiling of olfactory receptor gene expression in whole human olfactory mucosa publication-title: PLoS One contributor: fullname: Tarabichi – volume: 94 start-page: 1196 year: 2015 end-page: 1201 ident: bb0075 article-title: The publication-title: J. Dent. Res. contributor: fullname: Ott – volume: 279 start-page: 32786 year: 2004 end-page: 32795 ident: bb0150 article-title: Suppressors of T-cell receptor signaling Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases publication-title: J. Biol. Chem. contributor: fullname: Haglund – volume: 38 start-page: e164 year: 2010 ident: bb0115 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. contributor: fullname: Hakonarson – start-page: 91 year: 2015 end-page: 99 ident: bb0025 article-title: Genetics of the dentofacial variation in human malocclusion publication-title: Orthod. Craniofac. Res. contributor: fullname: Miller – volume: 7 start-page: 1517 year: 1998 end-page: 1525 ident: bb0160 article-title: Mutations in a novel gene, publication-title: Hum. Mol. Genet. contributor: fullname: Passmore – volume: 19 start-page: 361 year: 1997 end-page: 367 ident: bb0010 article-title: Malocclusion in the deciduous dentition of Caucasian children publication-title: Eur. J. Orthod. contributor: fullname: Sonko – volume: 21 start-page: 940 year: 2011 end-page: 951 ident: bb0125 article-title: Low-coverage sequencing: implications for design of complex trait association studies publication-title: Genome Res. contributor: fullname: Kang – volume: 55 start-page: 867 year: 2010 end-page: 872 ident: bb0045 article-title: Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population publication-title: Arch. Oral Biol. contributor: fullname: Rabie – volume: 183 start-page: 14 year: 1992 end-page: 20 ident: bb0155 article-title: Demonstration of receptors for epidermal growth factor on cultured rabbit chondrocytes and regulation of their expression by various growth and differentiation factors publication-title: Biochem. Biophys. Res. Commun. contributor: fullname: Suzuki – volume: 39 start-page: 729 year: 1953 end-page: 755 ident: bb0110 article-title: Cephalometrics for you and me publication-title: Am. J. Orthod. contributor: fullname: Steiner – volume: 152 start-page: 382 year: 2017 end-page: 388 ident: bb0085 article-title: Genome-wide association study for mandibular prognathism using microsatellite and pooled DNA method publication-title: Am. J. Orthod. Dentofac. Orthop. contributor: fullname: Oka – volume: 19 start-page: 241 year: 1998 end-page: 247 ident: bb0165 article-title: Identification of the gene responsible for Best macular dystrophy publication-title: Nat. Genet. contributor: fullname: Bakall – volume: 13 start-page: 69 year: 2010 end-page: 74 ident: bb0020 article-title: Genes, genetics, and Class III malocclusion publication-title: Orthod. Craniofac. Res. contributor: fullname: Rabie – volume: 12 start-page: 382 year: 1999 end-page: 405 ident: bb0005 article-title: Morphologic determinants in the etiology of class III malocclusions: a review publication-title: Clin. Anat. contributor: fullname: Singh – volume: 145 start-page: 757 year: 2014 end-page: 762 ident: bb0080 article-title: Microsatellite genome-wide association study for mandibular prognathism publication-title: Am. J. Orthod. Dentofac. Orthop. contributor: fullname: Oka – volume: 92 start-page: 893 year: 2013 end-page: 898 ident: bb0095 article-title: A missense mutation in publication-title: J. Dent. Res. contributor: fullname: Jagomägi – volume: 84 start-page: 255 year: 2005 end-page: 259 ident: bb0035 article-title: Genome-wide linkage analysis of mandibular prognathism in Korean and Japanese patient publication-title: J. Dent. Res. contributor: fullname: Narita – volume: 24 start-page: 1786 year: 2016 end-page: 1794 ident: bb0175 article-title: Activation of a chondrocyte volume-sensitive Cl publication-title: Osteoarthr. Cartil. contributor: fullname: Staunton – volume: 10 start-page: 11250 year: 2015 ident: bb0100 article-title: Identification of a mutation in FGF23 involved in mandibular prognathism publication-title: Sci. Rep. contributor: fullname: Gu – volume: 101 start-page: 2584 year: 2004 end-page: 2589 ident: bb0130 article-title: The human olfactory receptor gene family publication-title: Proc. Natl. Acad. of Sci. U. S. A. contributor: fullname: Buck – volume: 461 start-page: 272 year: 2009 ident: 10.1016/j.bone.2019.03.004_bb0090 article-title: Targeted capture and massively parallel sequencing of 12 human exomes publication-title: Nature doi: 10.1038/nature08250 contributor: fullname: Ng – volume: 2 start-page: e1068 year: 2017 ident: 10.1016/j.bone.2019.03.004_bb0030 article-title: Candidate gene analyses of mandibular prognathism publication-title: J. Dent. Oral Biol. contributor: fullname: Kajii – volume: 5 start-page: e12678 year: 2010 ident: 10.1016/j.bone.2019.03.004_bb0065 article-title: Genome scan for locus involved in mandibular prognathism in pedigrees from China publication-title: PLoS One doi: 10.1371/journal.pone.0012678 contributor: fullname: Li – volume: 94 start-page: 1196 year: 2015 ident: 10.1016/j.bone.2019.03.004_bb0075 article-title: The ADAMTSI gene is associated with familial mandibular prognathism publication-title: J. Dent. Res. doi: 10.1177/0022034515589957 contributor: fullname: Guan – volume: 19 start-page: 241 year: 1998 ident: 10.1016/j.bone.2019.03.004_bb0165 article-title: Identification of the gene responsible for Best macular dystrophy publication-title: Nat. Genet. doi: 10.1038/915 contributor: fullname: Petrukhin – volume: 84 start-page: 255 year: 2005 ident: 10.1016/j.bone.2019.03.004_bb0035 article-title: Genome-wide linkage analysis of mandibular prognathism in Korean and Japanese patient publication-title: J. Dent. Res. doi: 10.1177/154405910508400309 contributor: fullname: Yamaguchi – volume: 94 start-page: 569 year: 2015 ident: 10.1016/j.bone.2019.03.004_bb0105 article-title: Genetic association of ARHGAP21 gene variant with mandibular prognathism publication-title: J. Dent. Res. doi: 10.1177/0022034515572190 contributor: fullname: Perillo – volume: 141 start-page: 51 year: 2012 ident: 10.1016/j.bone.2019.03.004_bb0060 article-title: Genetic variation in Myosin 1H contributesto mandibular prognathism publication-title: Am. J. Orthod. Dentofac. Orthop. doi: 10.1016/j.ajodo.2011.06.033 contributor: fullname: Tassopoulou-Fishell – volume: 90 start-page: 53 year: 2011 ident: 10.1016/j.bone.2019.03.004_bb0070 article-title: The identification of a novel locus for mandibular prognathism in the Han Chinese population publication-title: J. Dent. Res. doi: 10.1177/0022034510382546 contributor: fullname: Li – volume: 21 start-page: 940 year: 2011 ident: 10.1016/j.bone.2019.03.004_bb0125 article-title: Low-coverage sequencing: implications for design of complex trait association studies publication-title: Genome Res. doi: 10.1101/gr.117259.110 contributor: fullname: Li – volume: 9 start-page: e96333 year: 2014 ident: 10.1016/j.bone.2019.03.004_bb0135 article-title: Profiling of olfactory receptor gene expression in whole human olfactory mucosa publication-title: PLoS One doi: 10.1371/journal.pone.0096333 contributor: fullname: Verbeurgt – volume: 7 start-page: 1517 year: 1998 ident: 10.1016/j.bone.2019.03.004_bb0160 article-title: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease) publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/7.9.1517 contributor: fullname: Marquardt – volume: 13 start-page: 69 year: 2010 ident: 10.1016/j.bone.2019.03.004_bb0020 article-title: Genes, genetics, and Class III malocclusion publication-title: Orthod. Craniofac. Res. doi: 10.1111/j.1601-6343.2010.01485.x contributor: fullname: Xue – volume: 92 start-page: 893 year: 2013 ident: 10.1016/j.bone.2019.03.004_bb0095 article-title: A missense mutation in DUSP6 is associated with Class III malocclusion publication-title: J. Dent. Res. doi: 10.1177/0022034513502790 contributor: fullname: Nikopensius – volume: 10 start-page: 281 year: 2002 ident: 10.1016/j.bone.2019.03.004_bb0170 article-title: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family publication-title: Eur. J. Hum. Genet. doi: 10.1038/sj.ejhg.5200796 contributor: fullname: Stöhr – volume: 89 start-page: 1203 year: 2010 ident: 10.1016/j.bone.2019.03.004_bb0040 article-title: Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans publication-title: J. Dent. Res. doi: 10.1177/0022034510375962 contributor: fullname: Jang – volume: 10 start-page: 11250 year: 2015 ident: 10.1016/j.bone.2019.03.004_bb0100 article-title: Identification of a mutation in FGF23 involved in mandibular prognathism publication-title: Sci. Rep. doi: 10.1038/srep11250 contributor: fullname: Chen – volume: 152 start-page: 382 year: 2017 ident: 10.1016/j.bone.2019.03.004_bb0085 article-title: Genome-wide association study for mandibular prognathism using microsatellite and pooled DNA method publication-title: Am. J. Orthod. Dentofac. Orthop. doi: 10.1016/j.ajodo.2017.01.021 contributor: fullname: Saito – volume: 39 start-page: 729 year: 1953 ident: 10.1016/j.bone.2019.03.004_bb0110 article-title: Cephalometrics for you and me publication-title: Am. J. Orthod. doi: 10.1016/0002-9416(53)90082-7 contributor: fullname: Steiner – volume: 145 start-page: 757 year: 2014 ident: 10.1016/j.bone.2019.03.004_bb0080 article-title: Microsatellite genome-wide association study for mandibular prognathism publication-title: Am. J. Orthod. Dentofac. Orthop. doi: 10.1016/j.ajodo.2014.01.022 contributor: fullname: Ikuno – volume: 38 start-page: e164 year: 2010 ident: 10.1016/j.bone.2019.03.004_bb0115 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 contributor: fullname: Wang – volume: 90 start-page: 1202 year: 2011 ident: 10.1016/j.bone.2019.03.004_bb0050 article-title: Exclusion of Class III malocclusion candidate loci in Brazilian families publication-title: J. Dent. Res. doi: 10.1177/0022034511416668 contributor: fullname: Cruz – volume: 6 start-page: e8018 year: 2015 ident: 10.1016/j.bone.2019.03.004_bb0120 article-title: Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals publication-title: Nat. Commun. doi: 10.1038/ncomms9018 contributor: fullname: Nagasaki – volume: 55 start-page: 585 year: 1969 ident: 10.1016/j.bone.2019.03.004_bb0140 article-title: Prediction of mandibular growth rotation publication-title: Am. J. Orthod. doi: 10.1016/0002-9416(69)90036-0 contributor: fullname: Björk – volume: 101 start-page: 2584 year: 2004 ident: 10.1016/j.bone.2019.03.004_bb0130 article-title: The human olfactory receptor gene family publication-title: Proc. Natl. Acad. of Sci. U. S. A. doi: 10.1073/pnas.0307882100 contributor: fullname: Malnic – volume: 19 start-page: 361 year: 1997 ident: 10.1016/j.bone.2019.03.004_bb0010 article-title: Malocclusion in the deciduous dentition of Caucasian children publication-title: Eur. J. Orthod. doi: 10.1093/ejo/19.4.361 contributor: fullname: Tschill – volume: 90 start-page: 106 year: 1986 ident: 10.1016/j.bone.2019.03.004_bb0015 article-title: Genetic and environmental factors in the development of so-called pseudo-and true mesiocclusions publication-title: Am. J. Orthod. Dentofac. Orthop. doi: 10.1016/0889-5406(86)90041-7 contributor: fullname: Nakasima – start-page: 91 issue: 1 Suppl year: 2015 ident: 10.1016/j.bone.2019.03.004_bb0025 article-title: Genetics of the dentofacial variation in human malocclusion publication-title: Orthod. Craniofac. Res. doi: 10.1111/ocr.12083 contributor: fullname: Moreno Uribe – volume: 279 start-page: 32786 year: 2004 ident: 10.1016/j.bone.2019.03.004_bb0150 article-title: Suppressors of T-cell receptor signaling Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases publication-title: J. Biol. Chem. doi: 10.1074/jbc.M403759200 contributor: fullname: Kowanetz – volume: 24 start-page: 1786 year: 2016 ident: 10.1016/j.bone.2019.03.004_bb0175 article-title: Activation of a chondrocyte volume-sensitive Cl− conductance prior to macroscopic cartilage lesion formation in the rabbit knee anterior cruciate ligament transection osteoarthritis model publication-title: Osteoarthr. Cartil. doi: 10.1016/j.joca.2016.05.019 contributor: fullname: Kumagai – volume: 55 start-page: 867 year: 2010 ident: 10.1016/j.bone.2019.03.004_bb0045 article-title: Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population publication-title: Arch. Oral Biol. doi: 10.1016/j.archoralbio.2010.07.018 contributor: fullname: Xue – volume: 12 start-page: 382 year: 1999 ident: 10.1016/j.bone.2019.03.004_bb0005 article-title: Morphologic determinants in the etiology of class III malocclusions: a review publication-title: Clin. Anat. doi: 10.1002/(SICI)1098-2353(1999)12:5<382::AID-CA9>3.0.CO;2-0 contributor: fullname: Singh – volume: 183 start-page: 14 year: 1992 ident: 10.1016/j.bone.2019.03.004_bb0155 article-title: Demonstration of receptors for epidermal growth factor on cultured rabbit chondrocytes and regulation of their expression by various growth and differentiation factors publication-title: Biochem. Biophys. Res. Commun. doi: 10.1016/0006-291X(92)91601-L contributor: fullname: Kinoshita – volume: 19 start-page: 41 year: 2005 ident: 10.1016/j.bone.2019.03.004_bb0145 article-title: Elevated levels of β-endorphin in temporomandibular joint synovial lavage fluid of patients with closed lock publication-title: J. Orofac. Pain contributor: fullname: Kajii – volume: 88 start-page: 56 year: 2009 ident: 10.1016/j.bone.2019.03.004_bb0055 article-title: Evidence of linkage in a hispanic cohort with a Class III dentofacial phenotype publication-title: J. Dent. Res. doi: 10.1177/0022034508327817 contributor: fullname: Frazier-Bowers |
| SSID | ssj0003971 |
| Score | 2.387292 |
| Snippet | Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five... |
| SourceID | proquest crossref pubmed elsevier |
| SourceType | Aggregation Database Index Database Publisher |
| StartPage | 193 |
| SubjectTerms | Bestrophin 3 Endochondral growth Genetics Japanese Mandibular prognathism Whole-exome sequencing |
| Title | Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism |
| URI | https://dx.doi.org/10.1016/j.bone.2019.03.004 https://www.ncbi.nlm.nih.gov/pubmed/30849546 https://search.proquest.com/docview/2189547825 |
| Volume | 122 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1bi9NAFB66K4gvorvq1hsjiC9hSpKZNOnjql0WRR9sRfElzC2QlqZLL-L-Fv-s52QmSbfLigq-lDYhkyHf1zNnTr5zDiEvTVhwmY1ipmSmmLBZwpS2mkXGgHucclHUxZ7PJ-nHr9nbsRj3ek0N1-7Yf0UajgHWmDn7F2i3g8IB-A6YwyegDp9_hPsXbHjL7I_lwgZeJ-3TVmTwDlZG7DgZXMCSBRtti0mSLgtuDadXqAKrlhVbXzZBgQBDCTBehWWPl5vS2OA77K4BDhzx9Xgy5dipRqJ4zJQYPah1iwv8pWqFKwrAqrrt8eLKC-Sl8273OwHtRCbey1lZaw2mco4tn4LJoA0Jz104eF6u2mVlIsu6JVRwtl04cZnLddyst6XLP6l2QxyYVZXshjja3Jt9aeiQ8di1LhpYZ76zlLO4MZmNfXeJz95CR64ho1_sI9cC-9o64kIas4GCh4H6P18JV3SrZqtlnOBEcB4wMvrf2QG5FYPVQ6P7LfnUugXg-EUu2Oym7TO4nNhw_z43eUk37YJqb2h6j9z12xh66vh3n_RsdUSOTwHo5eKSvqK1sLh-Y3NEbn_w-o1j8nOHnbRjJy0rKmnDTtqwk3bshNPITnqVnfQaO6lnJ45Ys5NKvLZlJwV20o6ddIedD8jns_H0zTnz7UGYFnG8YZHNQmW00kanWuhkKGB3ngmbqFTHozCVQ6vBfQ9tFnGFmcKws48LYZQSShVRwR-SQ5ivPSGUy8KCD6dGikfCZGbEpTYyCU2M9ek075OggSO_cFVg8kYeOcsRvBzBy0OeA3h9kjSI5d6Pdf5pDvT67XUvGnhzMPL45g4eOzzNHPzwERbei5M-eeRwb-fBw0zAyeHjf7zrE3Kn-889JYeb1dY-Iwdrs31eE_gX7hPWiA |
| link.rule.ids | 315,782,786,27933,27934 |
| linkProvider | Elsevier |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Whole-exome+sequencing+in+a+Japanese+pedigree+implicates+a+rare+non-synonymous+single-nucleotide+variant+in+BEST3+as+a+candidate+for+mandibular+prognathism&rft.jtitle=Bone+%28New+York%2C+N.Y.%29&rft.au=Kajii%2C+Takashi+S.&rft.au=Oka%2C+Akira&rft.au=Saito%2C+Fumio&rft.au=Mitsui%2C+Jun&rft.date=2019-05-01&rft.pub=Elsevier+Inc&rft.issn=8756-3282&rft.eissn=1873-2763&rft.volume=122&rft.spage=193&rft.epage=198&rft_id=info:doi/10.1016%2Fj.bone.2019.03.004&rft.externalDocID=S8756328219300808 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=8756-3282&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=8756-3282&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=8756-3282&client=summon |