H
Huntington F. Willard
Researcher at Case Western Reserve University
Publications - 151
Citations - 11827
Huntington F. Willard is an academic researcher from Case Western Reserve University. The author has contributed to research in topics: X chromosome & XIST. The author has an hindex of 64, co-authored 151 publications receiving 11553 citations. Previous affiliations of Huntington F. Willard include University of Toronto & University Hospitals of Cleveland.
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Journal ArticleDOI
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
Egbert Bakker,N. Goor,Klaus Wrogemann,Louis M. Kunkel,W.A Fenton,Danielle Majoor-Krakauer,M.G.J Jahoda,G.J.B. van Ommen,Marten H. Hofker,Jean-Louis Mandel,Kay E. Davies,Huntington F. Willard,L. A. Sandkuyl,Anthonie J. van Essen,E.S Sachs,Peter L. Pearson +15 more
TL;DR: By the use of a series of closely linked DNA probes detecting restriction fragment length polymorphisms (RFLPs), a double crossover was detected in a Duchenne muscular dystrophy carrier and an affected male fetus was diagnosed at 12 weeks of gestation.
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A first-generation X-inactivation profile of the human X chromosome
TL;DR: The genes that escape inactivation are distributed nonrandomly along the X; 31 of 34 such transcripts map to Xp, implying that the two arms of the X are epigenetically and/or evolutionarily distinct and suggesting that genetic imbalance of Xp may be more severe clinically than imbalance ofXq.
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A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.
Robert M. Plenge,Brian Hendrich,Charles E. Schwartz,Arena Jf,Anna K. Naumova,Carmen Sapienza,Winter Rm,Huntington F. Willard +7 more
TL;DR: A rare cytosine to guanine mutation in the XIST minimal promoter that underlies both epigenetic and functional differences between the two X chromosomes in nine females from two unrelated families is reported, suggesting that there is an association between alterations in the regulation of XIST expression and X-chromosome inactivation.
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The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1
Jennifer M. Puck,Suzanne M. Deschênes,Joanne C. Porter,Amalla S. Dutra,Carolyn J. Brown,Huntington F. Willard,Paula S. Henthorn +6 more
TL;DR: The demonstration of impaired IL2RG mRNA expression in males with X-linked SCID and of unique point mutations in SCIDX1 pedigrees constitutes powerful evidence that the SCID X1 gene is IL2 RG, a candidate for the X- linked form of severe combined immunodeficiency at the SC IDX1 locus.
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The human X-inactivation centre is not required for maintenance of X-chromosome inactivation.
TL;DR: Analysis of the transcriptional activity of a number of X-linked genes in mouse/human somatic cell hybrids retaining an intact human inactive X chromosome or derivatives of the inactive X chromosomes lacking the XIC demonstrates that the presence of theXIC is not required for the maintenance of X inactivation in somatic cells.