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Items: 1 to 20 of 21

1.
Wolfram syndrome: new pathophysiological insights and therapeutic strategies
Ratnakar Mishra, Benson S. Chen, Prachi Richa, Patrick Yu-Wai-Man
Ther Adv Rare Dis. 2021 Jan-Dec; 2: 26330040211039518. Published online 2021 Aug 16. doi: 10.1177/26330040211039518
PMCID:
PMC10032446
AbstractArticlePDF–1.1M
2.
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
Eleonora Panfili, Giada Mondanelli, Ciriana Orabona, Maria L Belladonna, Marco Gargaro, Francesca Fallarino, Elena Orecchini, Paolo Prontera, Elisa Proietti, Giulio Frontino, Eva Tirelli, Alberta Iacono, Carmine Vacca, Paolo Puccetti, Ursula Grohmann, Susanna Esposito, Maria T Pallotta
Hum Mol Genet. 2021 Feb 1; 30(3-4): 265–276. Published online 2021 Mar 9. doi: 10.1093/hmg/ddab040
PMCID:
PMC8091036
AbstractArticlePDF–1.0M
3.
Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome
A. Samara, H.M. Lugar, T. Hershey, J.S. Shimony
AJNR Am J Neuroradiol. 2020 Dec; 41(12): 2364–2369. doi: 10.3174/ajnr.A6831
PMCID:
PMC7963228
AbstractArticlePDF–1.7M
4.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
5.
Longitudinal hearing loss in Wolfram syndrome
Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu, Tamara Hershey
Orphanet J Rare Dis. 2018; 13: 102. Published online 2018 Jun 27. doi: 10.1186/s13023-018-0852-0
PMCID:
PMC6020390
AbstractArticlePDF–1.0M
6.
Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian‐Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G. Barrett
Hum Mutat. 2017 Jul; 38(7): 764–777. Published online 2017 Jun 1. doi: 10.1002/humu.23233
PMCID:
PMC5535005
AbstractArticlePDF–503K
7.
Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts
Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley
Diabetes. 2017 Jul; 66(7): 2044–2053. Published online 2017 May 3. doi: 10.2337/db16-1296
PMCID:
PMC5482085
AbstractArticlePDF–1.4M
8.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
Cécile Rouzier, David Moore, Cécile Delorme, Sandra Lacas-Gervais, Samira Ait-El-Mkadem, Konstantina Fragaki, Florence Burté, Valérie Serre, Sylvie Bannwarth, Annabelle Chaussenot, Martin Catala, Patrick Yu-Wai-Man, Véronique Paquis-Flucklinger
Hum Mol Genet. 2017 May 1; 26(9): 1599–1611. Published online 2017 Mar 6. doi: 10.1093/hmg/ddx060
Correction in:
Hum Mol Genet. 2017 May 1; 26(9): 1786.
PMCID:
PMC5411739
AbstractArticlePDF–1.2M
9.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
10.
Wolfram Syndrome: Diagnosis, Management, and Treatment
Fumihiko Urano
Curr Diab Rep. 2016; 16: 6. Published online 2016 Jan 7. doi: 10.1007/s11892-015-0702-6
PMCID:
PMC4705145
AbstractArticlePDF–592K
11.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
12.
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese
BMC Med Genet. 2014; 15: 88. Published online 2014 Jul 24. doi: 10.1186/1471-2350-15-88
PMCID:
PMC4121299
AbstractArticlePDF–851K
13.
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
Vanita Berry, Cheryl Gregory-Evans, Warren Emmett, Naushin Waseem, Jacob Raby, DeQuincy Prescott, Anthony T Moore, Shomi S Bhattacharya
Eur J Hum Genet. 2013 Dec; 21(12): 1356–1360. Published online 2013 Mar 27. doi: 10.1038/ejhg.2013.52
PMCID:
PMC3831071
AbstractArticlePDF–1.1M
14.
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
Lori L. Bonnycastle, Peter S. Chines, Takashi Hara, Jeroen R. Huyghe, Amy J. Swift, Pirkko Heikinheimo, Jana Mahadevan, Sirkku Peltonen, Hanna Huopio, Pirjo Nuutila, Narisu Narisu, Rachel L. Goldfeder, Michael L. Stitzel, Simin Lu, Michael Boehnke, Fumihiko Urano, Francis S. Collins, Markku Laakso
Diabetes. 2013 Nov; 62(11): 3943–3950. Published online 2013 Oct 18. doi: 10.2337/db13-0571
PMCID:
PMC3806620
AbstractArticlePDF–1.0M
15.
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility
Amirreza Haghighi, Alireza Haghighi, Aria Setoodeh, Nasrollah Saleh-Gohari, Dewi Astuti, Timothy G Barrett
Eur J Hum Genet. 2013 Mar; 21(3): 347–351. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.154
PMCID:
PMC3573194
AbstractArticlePDF–444K
16.
Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype
Julia Rohayem, Christian Ehlers, Bärbel Wiedemann, Reinhard Holl, Konrad Oexle, Olga Kordonouri, Giuseppina Salzano, Thomas Meissner, Walter Burger, Edith Schober, Angela Huebner, Min Ae Lee-Kirsch, the Wolfram Syndrome Diabetes Writing Group
Diabetes Care. 2011 Jul; 34(7): 1503–1510. Published online 2011 Jun 17. doi: 10.2337/dc10-1937
PMCID:
PMC3120194
AbstractArticlePDF–285K
17.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner-Glindzicz, Sarah B. Emery, Marilyn B. Mets, Toril Fagerheim, Kristina Eriksson, Lars Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgård, Marci M. Lesperance, Lisbeth Tranebjærg
Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1298–1313. Published online 2011 Apr 28. doi: 10.1002/ajmg.a.33970
PMCID:
PMC3100366
AbstractArticlePDF–939K
18.
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
Barend F.T. Hogewind, Ronald J.E. Pennings, Frans A. Hol, Henricus P.M. Kunst, Elisabeth H. Hoefsloot, Johannes R.M. Cruysberg, Cor W.R.J. Cremers
Mol Vis. 2010; 16: 26–35. Published online 2010 Jan 12.
PMCID:
PMC2805421
AbstractArticlePDF–1.6M
19.
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, L Tranebjærg
J Med Genet. 2006 May; 43(5): 435–440. doi: 10.1136/jmg.2005.034892
PMCID:
PMC2649014
AbstractArticlePDF–646K
20.
A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
Sami  Amr, Cindy  Heisey, Min  Zhang, Xia-Juan  Xia, Kathryn H.  Shows, Kamel  Ajlouni, Arti  Pandya, Leslie S.  Satin, Hatem  El-Shanti, Rita  Shiang
Am J Hum Genet. 2007 Oct; 81(4): 673–683. Published online 2007 Aug 20. doi: 10.1086/520961
PMCID:
PMC2227919
AbstractArticlePDF–534K

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