Volume 31; Issue 6

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Human Mutation
Volume 31; Issue 6

Human Mutation

Volume 31; Issue 6

1

Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia

Alex Staffler, Markus Hammel, Mandy Wahlbuhl, Christoph Bidlingmaier, Andreas W. Flemmer, Philipp Pagel, Thomas Nicolai, Michael Wegner, Andreas Holzinger

Journal:

Year:

2010

Language:

english

File:

PDF, 416 KB

english, 2010

2

KMeyeDB: a graphical database of mutations in genes that cause eye diseases

Takashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, Saho Ohno-Nakamura, Nobuyoshi Shimizu, Shinsei Minoshima

Journal:

Year:

2010

Language:

english

File:

PDF, 429 KB

english, 2010

3

Performance of protein stability predictors

Sofia Khan, Mauno Vihinen

Journal:

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

4

Role of SFRS13A in low-density lipoprotein receptor splicing

I-Fang Ling, Steven Estus

Journal:

Year:

2010

Language:

english

File:

PDF, 427 KB

english, 2010

5

Predicting functional significance of cancer-associated p16INK4a mutations in CDKN2A

Heather A. McKenzie, Carina Fung, Therese M. Becker, Mal Irvine, Graham J. Mann, Richard F. Kefford, Helen Rizos

Journal:

Year:

2010

Language:

english

File:

PDF, 350 KB

english, 2010

6

Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease

Gerassimos E. Voutsinas, Eleana F. Stavrou, Gerassimos Karousos, Aggeliki Dasoula, Adamantia Papachatzopoulou, Maria Syrrou, Annemieke J.M.H. Verkerk, Peter van der Spek, George P. Patrinos, Reinhard

Journal:

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

7

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Alvarez, F. Nienke Boonstra, Johanna M.M. Hooymans, Arijit Mukhopadhyay, Deborah Shears, Marleen van Bers, Ilse J. de Wijs, Anth

Journal:

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

8

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I

Mariusz Walus, Elizabeth Kida, Adam A. Golabek

Journal:

Year:

2010

Language:

english

File:

PDF, 344 KB

english, 2010

9

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

Linda Mannini, Stefania Menga, Antonio Musio

Journal:

Year:

2010

Language:

english

File:

PDF, 230 KB

english, 2010

10

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan E. Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana S. Johnson, Lisa Rob

Journal:

Year:

2010

Language:

english

File:

PDF, 612 KB

english, 2010

11

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

Kathrin Bengesser, David N. Cooper, Katharina Steinmann, Lan Kluwe, Nadia A. Chuzhanova, Katharina Wimmer, Marcos Tatagiba, Sigrid Tinschert, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Year:

2010

Language:

english

File:

PDF, 290 KB

english, 2010

12

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Christel Vaché, Thomas Besnard, Catherine Blanchet, David Baux, Lise Larrieu, Valérie Faugère, Michel Mondain, Christian Hamel, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Year:

2010

Language:

english

File:

PDF, 431 KB

english, 2010

13

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Tara K. Maga, Carla J. Nishimura, Amy E. Weaver, Kathy L. Frees, Richard J.H. Smith

Journal:

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

14

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Allan J. Richards, Annie McNinch, Howard Martin, Kim Oakhill, Harjeet Rai, Sarah Waller, Becky Treacy, Joanne Whittaker, Sarah Meredith, Arabella Poulson, Martin P. Snead

Journal:

Year:

2010

Language:

english

File:

PDF, 770 KB

english, 2010

15

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

Roeland Huijgen, Iris Kindt, Sigrid W. Fouchier, Joep C. Defesche, Barbara A. Hutten, John J.P. Kastelein, Maud N. Vissers

Journal:

Year:

2010

Language:

english

File:

PDF, 152 KB

english, 2010

16

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

David N. Cooper, Jian-Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer-Sawatzki, Peter D. Stenson

Journal:

Year:

2010

Language:

english

File:

PDF, 420 KB

english, 2010

17

An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptors

Gunnar Kleinau, Annika Kreuchwig, Catherine L. Worth, Gerd Krause

Journal:

Year:

2010

Language:

english

File:

PDF, 428 KB

english, 2010

18

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Logan C. Walker, Phillip J. Whiley, Fergus J. Couch, Daniel J. Farrugia, Sue Healey, Diana M. Eccles, Feng Lin, Samantha A. Butler, Sheila A. Goff, Bryony A. Thompson, Sunil R. Lakhani, Leonard M. Da

Journal:

Year:

2010

Language:

english

File:

PDF, 450 KB

english, 2010

19

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL

Lorenzo L. Nichols II, Ramakrishna P. Alur, Elangovan Boobalan, Yuri V. Sergeev, Rafael C. Caruso, Edwin M. Stone, Anand Swaroop, Mary A. Johnson, Brian P. Brooks

Journal:

Year:

2010

Language:

english

File:

PDF, 1.49 MB

english, 2010

20

Are we overestimating the penetrance of mutations in SDHB?

Francesca Schiavi, Roger L. Milne, Emma Anda, Pilar Blay, Maurizio Castellano, Giuseppe Opocher, Mercedes Robledo, Alberto Cascón

Journal:

Year:

2010

Language:

english

File:

PDF, 92 KB

english, 2010

21

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Eric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, Sébastien Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laure

Journal:

Year:

2010

File:

PDF, 197 KB

2010

22

The Mutome and the 100,000 Mutation Milestone

Richard G.H. Cotton

Journal:

Year:

2010

Language:

english

File:

PDF, 67 KB

english, 2010

23

Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells

Journal:

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

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