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Anand Srivastava
Researcher at Indian Institute of Science
Publications - 121
Citations - 4290
Anand Srivastava is an academic researcher from Indian Institute of Science. The author has contributed to research in topics: Biology & Gene. The author has an hindex of 30, co-authored 99 publications receiving 3703 citations. Previous affiliations of Anand Srivastava include Indian Institute of Technology Kharagpur & Ohio State University.
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Journal ArticleDOI
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S. Tarpey,Raffaella Smith,Erin Pleasance,Annabel Whibley,Sarah Edkins,Claire Hardy,Sarah O’Meara,Calli Latimer,Ed Dicks,Andrew Menzies,Phil Stephens,Matt Blow,Christopher Greenman,Yali Xue,Chris Tyler-Smith,Deborah J. Thompson,Kristian Gray,Jenny Andrews,Syd Barthorpe,Gemma Buck,Jennifer Cole,Rebecca Dunmore,David T. Jones,Mark Maddison,Tatiana Mironenko,Rachel Turner,Kelly Turrell,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,Jon W. Teague,Adam Butler,Andrew M. Jenkinson,Mingming Jia,David S. Richardson,Rebecca Shepherd,Richard Wooster,M Isabel Tejada,Francisco Martínez,Gemma L. Carvill,Rene Goliath,Arjan P.M. de Brouwer,Hans van Bokhoven,Hilde Van Esch,Jamel Chelly,Martine Raynaud,Hans-Hilger Ropers,Fatima Abidi,Anand Srivastava,James J. Cox,Ying Luo,Uma Mallya,Jenny Moon,Josef Parnau,Shehla Mohammed,John Tolmie,Cheryl Shoubridge,Mark A. Corbett,Alison Gardner,Eric Haan,Sinitdhorn Rujirabanjerd,Marie Shaw,Lucianne Vandeleur,Tod Fullston,Douglas F. Easton,Jackie Boyle,Michael Partington,Anna Hackett,Michael Field,Cindy Skinner,Roger E. Stevenson,Martin Bobrow,Gillian Turner,Charles E. Schwartz,Jozef Gecz,Jozef Gecz,F. Lucy Raymond,P. Andrew Futreal,Michael R. Stratton +79 more
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Journal ArticleDOI
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
Anand Srivastava,Johanna Pispa,Andrew J. Hartung,Yang-Zhu Du,Sini Ezer,Ted Jenks,Tokihiko Shimada,Maija Pekkanen,Marja L. Mikkola,Minoru S.H. Ko,Irma Thesleff,Juha Kere,David Schlessinger +12 more
TL;DR: The Ta gene is cloned and it is found to be homologous to the EDA gene, which encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats.
Journal ArticleDOI
Mutations in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Patrick S. Tarpey,F. Lucy Raymond,Lam Son Nguyen,Jayson Rodriguez,Anna Hackett,Lucianne Vandeleur,Raffaella Smith,Cheryl Shoubridge,Sarah Edkins,Claire Stevens,Sarah O’Meara,Calli Tofts,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kelly Halliday,Katy Hills,David T. Jones,Tatiana Mironenko,Janet Perry,Jennifer Varian,Sofie West,Sara Widaa,John Teague,Ed Dicks,Adam Butler,Andrew Menzies,David S. Richardson,Andrew M. Jenkinson,Rebecca Shepherd,Keiran Raine,Jenny Moon,Yin Luo,Josep Parnau,Shambhu Bhat,Alison Gardner,Mark A. Corbett,Doug A. Brooks,Doug A. Brooks,Paul Q. Thomas,Emma J. Parkinson-Lawrence,Mary Porteous,John P. Warner,Tracy Sanderson,Pauline Pearson,Richard J. Simensen,Cindy Skinner,George Hoganson,Duane W Superneau,Richard Wooster,Martin Bobrow,Gillian Turner,Roger E. Stevenson,Charles E. Schwartz,P. Andrew Futreal,Anand Srivastava,Michael R. Stratton,Jozef Gecz,Jozef Gecz +58 more
TL;DR: This work identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype and suggests at least partial redundancy of NMD pathways.
Journal ArticleDOI
The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
Mònica Bayés,Andrew J. Hartung,Sini Ezer,Johanna Pispa,Irma Thesleff,Anand Srivastava,Juha Kere +6 more
TL;DR: A complete splicing map of the EDA gene is built up and the longest and what most probably represents the full-length EDA transcript, EDA-A is characterized, which encodes a 391 amino acid transmembrane protein with a short collagenous domain, (Gly-X-Y)19, and is highly homologous to the protein mutated in Tabby mice.
Journal ArticleDOI
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor
Patrick S. Tarpey,F. Lucy Raymond,Sarah O’Meara,Sarah Edkins,Jon W. Teague,Adam Butler,Ed Dicks,Claire Stevens,Calli Tofts,Tim Avis,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Andrew M. Jenkinson,David T. Jones,Andrew Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,David S. Richardson,Rebecca Shepherd,Alexandra Small,Jennifer Varian,Sofie West,Sara Widaa,Uma Mallya,Jenny Moon,Ying Luo,Susan E. Holder,Sarah F. Smithson,Jane A. Hurst,Jill Clayton-Smith,Bronwyn Kerr,Jackie Boyle,Marie Shaw,Lucianne Vandeleur,Jayson Rodriguez,Rachel Slaugh,Douglas F. Easton,Richard Wooster,Martin Bobrow,Anand Srivastava,Roger E. Stevenson,Charles E. Schwartz,Gillian Turner,Jozef Gecz,Jozef Gecz,P. Andrew Futreal,Michael R. Stratton,Michael Partington +53 more
TL;DR: The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.