Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
Dystonin (encoded byDST) is one of the largest proteins in humans and member of the plakin family of cytoskeleton linker protein.Mutations affecting its neuronal isoforms have been so far reported in only 2 families with highly discordant phenotypes of Hereditary Sensory and Autonomic Neuropathy (HSAN type VI).Here, we identified novel variants inDST as the genetic defects of HSAN ‐VI and contribute to its clinical and molecular definition. Functional studies showed altered cell‐motility and cytoskeletal defects providing novel pathogenic mechanisms. AbstractHereditary sensory and autonomic neuropathies (HSAN) are clin...
Source: Human Mutation - November 18, 2018 Category: Genetics & Stem Cells Authors: Paola Fortugno,
Francesco Angelucci,
Gianluca Cestra,
Letizia Camerota,
Angelo Salvatore Ferraro,
Sonia Cordisco,
Luigi Uccioli,
Daniele Castiglia,
Barbara Angelis,
Ingo Kurth,
Uwe Kornak,
Francesco Brancati Tags: RESEARCH ARTICLE Source Type: research
Cover Image, Volume 39, Issue 12
On the Front Cover: This cover image is based on the Research ArticleThe intellectual disability ‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function by Martina Proietti Onori et al., Pages 2008 –2024. DOI:10.1002/humu.23647. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Authors: Martina Proietti Onori,
Balwina Koopal,
David B. Everman,
Jessica D. Worthington,
Julie R. Jones,
Melissa A. Ploeg,
Edwin Mientjes,
Bregje W. Bon,
Tjitske Kleefstra,
Howard Schulman,
Steven A. Kushner,
S ébastien Küry,
Ype Elgersma,
Geeske Tags: COVER IMAGE Source Type: research
Back Cover, Volume 39, Issue 12
On the Back Cover: This cover image is based on the Research ArticleNovel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy by Jeffrey Schubert et al., Pages 2083 –2096. DOI:10.1002/humu.23661. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Authors: Jeffrey Schubert,
Muhammad Tariq,
Gabrielle Geddes,
Steven Kindel,
Erin M. Miller,
Stephanie M. Ware Tags: BACK COVER Source Type: research
Issue Information
Human Mutation, Volume 39, Issue 12, Page 1733-1737, December 2018. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research
Cover Image, Volume 39, Issue 12
On the Front Cover: This cover image is based on the Research ArticleThe intellectual disability ‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function by Martina Proietti Onori et al., Pages 2008 –2024. DOI:10.1002/humu.23647. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Authors: Martina Proietti Onori,
Balwina Koopal,
David B. Everman,
Jessica D. Worthington,
Julie R. Jones,
Melissa A. Ploeg,
Edwin Mientjes,
Bregje W. Bon,
Tjitske Kleefstra,
Howard Schulman,
Steven A. Kushner,
S ébastien Küry,
Ype Elgersma,
Geeske Tags: COVER IMAGE Source Type: research
Back Cover, Volume 39, Issue 12
On the Back Cover: This cover image is based on the Research ArticleNovel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy by Jeffrey Schubert et al., Pages 2083 –2096. DOI:10.1002/humu.23661. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Authors: Jeffrey Schubert,
Muhammad Tariq,
Gabrielle Geddes,
Steven Kindel,
Erin M. Miller,
Stephanie M. Ware Tags: BACK COVER Source Type: research
Issue Information
Human Mutation, Volume 39, Issue 12, Page 1733-1737, December 2018. (Source: Human Mutation)
Source: Human Mutation - November 17, 2018 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research
A novel autosomal recessive GJB2 ‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 15, 2018 Category: Genetics & Stem Cells Authors: Leila Youssefian,
Hassan Vahidnezhad,
Amir Hossein Saeidian,
Hamidreza Mahmoudi,
Razieh Karamzadeh,
Ariana Kariminejad,
Jianhe Huang,
Leping Li,
Thomas F. Jannace,
Paolo Fortina,
Sirous Zeinali,
Thomas W. White,
Jouni Uitto Tags: RESEARCH ARTICLE Source Type: research
Evidence of predisposing epimutation in retinoblastoma
In conclusion, we documented that promoter methylation can act as the first 'hit' in Knudson's model. This mosaic epimutation mimics the effect of an inactivating mutation and phenocopies RB onset.This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 14, 2018 Category: Genetics & Stem Cells Authors: Elisa Gelli,
Anna Maria Pinto,
Serena Somma,
Valentina Imperatore,
Marta G. Cannone,
Theodora Hadjistilianou,
Sonia Francesco,
Daniela Galimberti,
Aurora Curr ò,
Mirella Bruttini,
Francesca Mari,
Alessandra Renieri,
Francesca Ariani Tags: BRIEF REPORT Source Type: research
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 9, 2018 Category: Genetics & Stem Cells Authors: Nehir Edibe Kurtas,
Luciano Xumerle,
Lorena Leonardelli,
Massimo Delledonne,
Alfredo Brusco,
Krystyna Chrzanowska,
Albert Schinzel,
Daniela Larizza,
Silvana Guerneri,
Federica Natacci,
Maria Clara Bonaglia,
Paolo Reho,
Emmanouil Manolakos,
Te Tags: BRIEF REPORT Source Type: research
Disease ‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 8, 2018 Category: Genetics & Stem Cells Authors: Daniela Scalet,
Iva Maestri,
Alessio Branchini,
Francesco Bernardi,
Mirko Pinotti,
Dario Balestra Tags: BRIEF REPORT Source Type: research
Construction of cloning ‐friendly mini‐genes for mammalian expression of full‐length human NF1 isoforms
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 8, 2018 Category: Genetics & Stem Cells Authors: Yan Cui,
Helen Morrison Tags: BRIEF REPORT Source Type: research
In silico and in vivo models for Qatari ‐Specific classical homocystinuria as basis for development of novel therapies
This article is protected by copyright. All rights reserved (Source: Human Mutation)
Source: Human Mutation - November 8, 2018 Category: Genetics & Stem Cells Authors: Hesham M. Ismail,
Navaneethakrishnan Krishnamoorthy,
Nader Al ‐Dewik,
Hatem Zayed,
Nura A. Mohamed,
Valeria Di Giacomo,
Sapna Gupta,
Johannes Häberle,
Beat Thöny,
Henk J. Blom,
Waren D. Kruger,
Tawfeg Ben‐Omran,
Gheyath K. Nasrallah Tags: RESEARCH ARTICLE Source Type: research
Analysis of the TTR gene in the investigation of amyloidosis: A 25 ‐year single UK center experience
This review reports genetic testing results for 4459 patients with known or suspected amyloidosis who underwent TTR gene sequencing over the last 25 years in the UK single centre. 37% had final diagnosis of ATTR amyloidosis; 27% light chain amyloidosis; 0.7% other types of amyloidosis; 21.3% had no amyloid and 14% had no data. 45 different TTR variants were found in 770 (17%) cases; most prevalent were p.V142I, p.T80A, and p.V50M identified in 42%, 25% and 16% respectively. AbstractTransthyretin amyloidosis (ATTR) is caused by deposition of either wild ‐type (ATTRwt) or variant (ATTRm) transthyretin. ATTRwt presents with...
Source: Human Mutation - November 1, 2018 Category: Genetics & Stem Cells Authors: Dorota Rowczenio,
Candida C. Quarta,
Marianna Fontana,
Carol J. Whelan,
Ana Martinez ‐Naharro,
Hadija Trojer,
Anna Baginska,
Stuart M. Ferguson,
Janet Gilbertson,
Tamer Rezk,
Sajitha Sachchithanantham,
Shameem Mahmood,
Richa Manwani,
Faye S Tags: RESEARCH ARTICLE Source Type: research
