Search Results - "HOSKINS, Bethan E"

A systematic approach to mapping recessive disease genes in individuals from outbred populations by Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, O'Toole, John F, Hoskins, Bethan E, Wolf, Matthias T F, Hinkes, Bernward G, Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S, Ovunc, Bugsu, Allen, Susan J, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, Macdonald, James, Nürnberg, Peter, Otto, Edgar A

“…The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome…”
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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse by Katsanis, Nicholas, Kulaga, Heather M, Leitch, Carmen C, Eichers, Erica R, Badano, Jose L, Lesemann, Alysa, Hoskins, Bethan E, Lupski, James R, Beales, Philip L, Reed, Randall R

“…Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus. We…”
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome by Katsanis, Nicholas, Ansley, Stephen J, Badano, Jose L, Blacque, Oliver E, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Chul Kim, Jun, Ross, Alison J, Eichers, Erica R, Teslovich, Tanya M, Mah, Allan K, Johnsen, Robert C, Cavender, John C, Alan Lewis, Richard, Leroux, Michel R, Beales, Philip L

“…Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and…”
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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression by Leroux, Michel R, Katsanis, Nicholas, Kim, Jun Chul, Badano, Jose L, Sibold, Sonja, Esmail, Muneer A, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Venner, Kerrie, Ansley, Stephen J, Ross, Alison J, Beales, Philip L

“…BBS4 is one of several proteins that cause Bardet-Biedl syndrome (BBS), a multisystemic disorder of genetic and clinical complexity. Here we show that BBS4…”
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder by Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.

“…Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy,…”
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome by PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly…”
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Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis by Saisawat, Pawaree, Tasic, Velibor, Vega-Warner, Virginia, Kehinde, Elijah O, Günther, Barbara, Airik, Rannar, Innis, Jeffrey W, Hoskins, Bethan E, Hoefele, Julia, Otto, Edgar A, Hildebrandt, Friedhelm

“…Congenital abnormalities of the kidney and urinary tract (CAKUT) are the most frequent cause of chronic kidney disease in children, accounting for about half…”
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible by Hildebrandt, Friedhelm, Hinkes, Bernward, Wiggins, Roger C, Gbadegesin, Rasheed, Vlangos, Christopher N, Seelow, Dominik, Nürnberg, Gudrun, Garg, Puneet, Verma, Rakesh, Chaib, Hassan, Hoskins, Bethan E, Ashraf, Shazia, Becker, Christian, Hennies, Hans Christian, Goyal, Meera, Wharram, Bryan L, Schachter, Asher D, Mudumana, Sudha, Drummond, Iain, Kerjaschki, Dontscho, Waldherr, Rüdiger, Dietrich, Alexander, Ozaltin, Fatih, Bakkaloglu, Aysin, Cleper, Roxana, Basel-Vanagaite, Lina, Pohl, Martin, Griebel, Martin, Tsygin, Alexey N, Soylu, Alper, Müller, Dominik, Sorli, Caroline S, Bunney, Tom D, Katan, Matilda, Liu, Jinhong, Attanasio, Massimo, O'Toole, John F, Hasselbacher, Katrin, Mucha, Bettina, Otto, Edgar A, Airik, Rannar, Kispert, Andreas, Kelley, Grant G, Smrcka, Alan V, Gudermann, Thomas, Holzman, Lawrence B, Nürnberg, Peter

“…Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney…”
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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome by Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., Kimberling, William J., Smith, Richard J.H., Weil, Dominique, Petit, Christine, Otto, Edgar A., Xu, Pin-Xian, Hildebrandt, Friedhelm

“…Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and…”
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy by O'Toole, John F, Liu, Yangjian, Davis, Erica E, Westlake, Christopher J, Attanasio, Massimo, Otto, Edgar A, Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P, Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T F, Wise, Eric, Helou, Juliana, Allen, Susan J, Murga-Zamalloa, Carlos A, Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E, Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R Elwyn, Quarmby, Lynne M, Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L, Rotig, Agnes, Sayer, John A, Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M, Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm

“…The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in the first 3 decades of…”
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Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS) by Gbadegesin, Rasheed, Hinkes, Bernward G., Hoskins, Bethan E., Vlangos, Christopher N., Heeringa, Saskia F., Liu, Jinhong, Loirat, Chantal, Ozaltin, Fatih, Hashmi, Seema, Ulmer, Francis, Cleper, Roxanna, Ettenger, Robert, Antignac, Corinne, Wiggins, Roger C., Zenker, Martin, Hildebrandt, Friedhelm

“…Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early…”
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Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome by Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

“…Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci ( BBS1– 7), five of which are cloned (…”
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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus by Badano, Jose L., Kim, Jun Chul, Hoskins, Bethan E., Lewis, Richard Alan, Ansley, Stephen J., Cutler, David J., Castellan, Claudio, Beales, Philip L., Leroux, Michel R., Katsanis, Nicholas

“…Bardet–Biedl syndrome (BBS) is a pleiotropic genetic disorder with substantial inter- and intrafamilial variability, that also exhibits remarkable genetic…”
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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome by Heeringa, Saskia F., Vlangos, Christopher N., Chernin, Gil, Hinkes, Bernward, Gbadegesin, Rasheed, Liu, Jinhong, Hoskins, Bethan E., Ozaltin, Fatih, Hildebrandt, Friedhelm

“…Background. Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients…”
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Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 by Mucha, Bettina, Ozaltin, Fatih, Hinkes, Bernward G, Hasselbacher, Katrin, Ruf, Rainer G, Schultheiss, Michael, Hangan, Daniela, Hoskins, Bethan E, Everding, Anne Schulze, Bogdanovic, Radovan, Seeman, Thomas, Hoppe, Bernd, Hildebrandt, Friedhelm

“…Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease…”
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Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 by Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm

“…Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous…”
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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance by Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.

“…Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction…”
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Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations by Hoskins, Bethan E., Cramer, Carl H., Tasic, Velibor, Kehinde, Elijah O., Ashraf, Shazia, Bogdanovic, Radovan, Hoefele, Julia, Pohl, Martin, Hildebrandt, Friedhelm

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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT) by Wolf, Matthias T. F., Hoskins, Bethan E., Beck, Bodo B., Hoppe, Bernd, Tasic, Velibor, Otto, Edgar A., Hildebrandt, Friedhelm

“…Uromodulin ( UMOD ) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and…”
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Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique by Hoskins, Bethan E., Thorn, Anita, Scambler, Peter J., Beales, Philip L.

“…Bardet‐Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7). Inheritance…”
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