Search Results - "Kosaki, Kenjiro"

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan by Mishima, Hiroyuki, Suzuki, Hisato, Doi, Michiko, Miyazaki, Mutsuko, Watanabe, Satoshi, Matsumoto, Tadashi, Morifuji, Kanako, Moriuchi, Hiroyuki, Yoshiura, Koh-Ichiro, Kondoh, Tatsuro, Kosaki, Kenjiro

“…An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes…”
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Prevalence of Hallermann–Streiff syndrome in a Japanese pediatric population by Numabe, Hironao, Kosaki, Kenjiro

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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese by Okada, Yukinori, Momozawa, Yukihide, Sakaue, Saori, Kanai, Masahiro, Ishigaki, Kazuyoshi, Akiyama, Masato, Kishikawa, Toshihiro, Arai, Yasumichi, Sasaki, Takashi, Kosaki, Kenjiro, Suematsu, Makoto, Matsuda, Koichi, Yamamoto, Kazuhiko, Kubo, Michiaki, Hirose, Nobuyoshi, Kamatani, Yoichiro

“…Understanding natural selection is crucial to unveiling evolution of modern humans. Here, we report natural selection signatures in the Japanese population…”
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Involvement of the zebrafish trrap gene in craniofacial development by Suzuki, Taichi, Hirai, Yo, Uehara, Tomoko, Ohga, Rie, Kosaki, Kenjiro, Kawahara, Atsuo

“…Trrap (transformation/transcription domain-associated protein) is a component shared by several histone acetyltransferase (HAT) complexes and participates in…”
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Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta by Takenouchi, Toshiki, Okuno, Hironobu, Kosaki, Kenjiro

“…Specific classes of de novo heterozygous gain‐of‐function pathogenic variants of the PDGFRB (platelet‐derived growth factor receptor‐beta) cause a distinctive…”
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Café-au-lait Spots and Cleft Palate: Not a Chance Association by Yamada, Mamiko, Tanito, Katsumi, Suzuki, Hisato, Nakato, Daisuke, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

“…The recognition of syndromic forms of cleft palate is important for condition-specific management. Here, we report a patient with cleft palate, congenital…”
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Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks by Yamada, Mamiko, Arimitsu, Takeshi, Osada, Asami, Kosaki, Kenjiro

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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia by Takenouchi, Toshiki, Okamoto, Nobuhiko, Ida, Shinobu, Uehara, Tomoko, Kosaki, Kenjiro

“…We previously documented a girl with macrothrombocytopenia and developmental delay who carried a de novo mutation in CDC42, which plays pivotal roles in the…”
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A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants by Takahashi, Yoko, Kubota, Masaya, Kosaki, Rika, Kosaki, Kenjiro, Ishiguro, Akira

“…Spinocerebellar ataxia, autosomal recessive 2 (SCAR2) [MIM:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration…”
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Long-term clinical course of Heyn-Sproul-Jackson syndrome by Futagawa, Hiroshi, Ito, Shiho, Kosaki, Kenjiro, Yoshihashi, Hiroshi

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Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy by Suzuki-Muromoto, Sato, Kosaki, Rika, Kosaki, Kenjiro, Kubota, Masaya

“…To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive…”
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Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis by Yamada, Mamiko, Arimitsu, Takeshi, Suzuki, Hisato, Miwa, Tomoru, Kosaki, Kenjiro

“…Lateral meningocele syndrome is characterized by multiple lateral meningoceles with a distinctive craniofacial appearance, hyperextensibility of the skin, and…”
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Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome by Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

“…The PUF60 gene encodes a ubiquitously expressed essential splicing factor that is recruited to the U2snRNA complex. The complex binds to the 3′ splice site of…”
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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children by Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi

“…A heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 have been previously described. Here we report two cases of infantile‐onset…”
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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model by Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki

“…The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42 ,…”
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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing by Yamada, Mamiko, Okuno, Hironobu, Okamoto, Nobuhiko, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

“…The CpG island flanking the promoter region of SNRPN on chromosome 15q11.2 contains CpG sites that are completely methylated in the maternally derived allele…”
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The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals by Uwamino, Yoshifumi, Yokoyama, Takashi, Shimura, Takako, Nishimura, Tomoyasu, Sato, Yasunori, Wakui, Masatoshi, Kosaki, Kenjiro, Hasegawa, Naoki, Murata, Mitsuru

“…•Neutralization antibody were measured against SARS-CoV-2 variants after vaccination.•Low neutralization antibody titer was observed against beta and delta…”
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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter by Umeno, Junji, Hisamatsu, Tadakazu, Esaki, Motohiro, Hirano, Atsushi, Kubokura, Naoya, Asano, Kouichi, Kochi, Shuji, Yanai, Shunichi, Fuyuno, Yuta, Shimamura, Katsuyoshi, Hosoe, Naoki, Ogata, Haruhiko, Watanabe, Takashi, Aoyagi, Kunihiko, Ooi, Hidehisa, Watanabe, Kenji, Yasukawa, Shigeyoshi, Hirai, Fumihito, Matsui, Toshiyuki, Iida, Mitsuo, Yao, Tsuneyoshi, Hibi, Toshifumi, Kosaki, Kenjiro, Kanai, Takanori, Kitazono, Takanari, Matsumoto, Takayuki

“…Previously, we proposed a rare autosomal recessive inherited enteropathy characterized by persistent blood and protein loss from the small intestine as chronic…”
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Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data by Shiraishi, Yuichi, Okada, Ai, Chiba, Kenichi, Kawachi, Asuka, Omori, Ikuko, Mateos, Raúl Nicolás, Iida, Naoko, Yamauchi, Hirofumi, Kosaki, Kenjiro, Yoshimi, Akihide

“…Many disease-associated genomic variants disrupt gene function through abnormal splicing. With the advancement of genomic medicine, identifying…”
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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype by Takenouchi, Toshiki, Miura, Kiyokuni, Uehara, Tomoko, Mizuno, Seiji, Kosaki, Kenjiro

“…A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5‐year‐old girl with intellectual disability and multiple congenital…”
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