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Non-mammalian models for epigenetic analyses in cancer

JOURNAL ARTICLE published 15 April 2007 in Human Molecular Genetics

Authors: Matthias Schaefer | Madeleine Meusburger | Frank Lyko

The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects

JOURNAL ARTICLE published 15 July 2009 in Human Molecular Genetics

Authors: Sara Ota | Zi-Qiang Zhou | Jason M. Link | Peter J. Hurlin

CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome

JOURNAL ARTICLE published 15 November 2014 in Human Molecular Genetics

Authors: Jocelyn N. Galloway | Chad Shaw | Peng Yu | Deena Parghi | Mickael Poidevin | Peng Jin | David L. Nelson

A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice

JOURNAL ARTICLE published 15 July 2014 in Human Molecular Genetics

Authors: Fubiao Shi | Sheng Ding | Shimin Zhao | Min Han | Yuan Zhuang | Tian Xu | Xiaohui Wu

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome

JOURNAL ARTICLE published 15 March 2015 in Human Molecular Genetics

Authors: E. Heude | B. Bellessort | A. Fontaine | M. Hamazaki | A.-C. Treier | M. Treier | G. Levi | N. Narboux-Neme

Early hypermethylation of hepaticIgfbp2results in its reduced expression preceding fatty liver in mice

JOURNAL ARTICLE published 28 April 2016 in Human Molecular Genetics

Authors: Anne Kammel | Sophie Saussenthaler | Markus Jähnert | Wenke Jonas | Laura Stirm | Andreas Hoeflich | Harald Staiger | Andreas Fritsche | Hans-Ulrich Häring | Hans-Georg Joost | Annette Schürmann | Robert W. Schwenk

Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model

JOURNAL ARTICLE published 19 February 2023 in Human Molecular Genetics

Research funded by Ontario Ministry of Research and Innovation (ER-18-14-183) | Natural Sciences and Engineering Research Council of Canada (04776–2014)

Authors: Yi Qiu | Rosan Kenana | Aruun Beharry | Sarah D P Wilhelm | Sung Yuan Hsu | Victoria M Siu | Martin Duennwald | Ilka U Heinemann

Activation of p38 signaling increases utrophin A expression in skeletal muscle via the RNA-binding protein KSRP and inhibition of AU-rich element-mediated mRNA decay: implications for novel DMD therapeutics

JOURNAL ARTICLE published 1 August 2013 in Human Molecular Genetics

Authors: A. Amirouche | H. Tadesse | J. A. Lunde | G. Belanger | J. Cote | B. J. Jasmin

Artesunate ameliorates osteoarthritis cartilage damage by updating MTA1 expression and promoting the transcriptional activation of LXA4 to suppress the JAK2/STAT3 signaling pathway

JOURNAL ARTICLE published 6 April 2023 in Human Molecular Genetics

Authors: Chengjin Zhao | Li Zhao | Yuhu Zhou | Yangyang Feng | Nannan Li | Kunzheng Wang

High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity

JOURNAL ARTICLE published 15 November 2012 in Human Molecular Genetics

Authors: Sang Hwa Kim | Lihong Zhan | Keith A. Hanson | Randal S. Tibbetts

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function

JOURNAL ARTICLE published 1 July 2013 in Human Molecular Genetics

Authors: Meagan R. Pitcher | Christopher S. Ward | E. Melissa Arvide | Christopher A. Chapleau | Lucas Pozzo-Miller | Andreas Hoeflich | Manaswini Sivaramakrishnan | Stefanie Saenger | Friedrich Metzger | Jeffrey L. Neul

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves

JOURNAL ARTICLE published 27 June 2020 in Human Molecular Genetics

Research funded by National Institutes of Health (HD090256,R01 NS066927,RO1 NS083841)

Authors: Harrison Pantera | Bo Hu | Daniel Moiseev | Chris Dunham | Jibraan Rashid | John J Moran | Kathleen Krentz | C Dustin Rubinstein | Seongsik Won | Jun Li | John Svaren

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2

JOURNAL ARTICLE published 1 October 2014 in Human Molecular Genetics

Authors: Megan Hwa Brewer | Ki Hwan Ma | Gary W. Beecham | Chetna Gopinath | Frank Baas | Byung-Ok Choi | Mary M. Reilly | Michael E. Shy | Stephan Züchner | John Svaren | Anthony Antonellis | Chani Hodonsky | Richard Quarles | Kurt Fischbeck | Jim Lupski | Ken Inoue | Michael Wegner | Pavel Seeman | Kurt Fischbeck

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

JOURNAL ARTICLE published 1 September 2011 in Human Molecular Genetics

Authors: Anne-Laure Todeschini | Aurélie Dipietromaria | David L'Hôte | Fatima Zohra Boucham | Adrien B. Georges | P.J. Eswari Pandaranayaka | Sankaran Krishnaswamy | Isabelle Rivals | Claude Bazin | Reiner A. Veitia

Cloning and characterization of the human choroideremia gene

JOURNAL ARTICLE published 1994 in Human Molecular Genetics

Authors: Hans van Bokhoven | José A. J. M. van den Hurk | Liesbeth Bogerd | Christophe Philippe | Simone Gilgenkrantz | Pieter de Jong | Hans-Hilger Ropers | Frans P. M. Cremers

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

JOURNAL ARTICLE published 15 February 2010 in Human Molecular Genetics

Authors: Sonia Clavero | David F. Bishop | Mark E. Haskins | Urs Giger | Raili Kauppinen | Robert J. Desnick

Functional analysis of sucrase–isomaltase mutations from chronic lymphocytic leukemia patients

JOURNAL ARTICLE published 1 June 2013 in Human Molecular Genetics

Authors: David Rodríguez | Andrew J. Ramsay | Víctor Quesada | Cecilia Garabaya | Elías Campo | José M. P. Freije | Carlos López-Otín

Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method

JOURNAL ARTICLE published 1 March 1997 in Human Molecular Genetics

Authors: G. Sirugo | A. S. Deinard | J. R. Kidd | K. K. Kidd

Microsatellite repeat polymorphism at the D13S197 locus

JOURNAL ARTICLE published 1993 in Human Molecular Genetics

Authors: Hee-Kyung Hong | Roberto Giorda | Ling Mei Yu | Massimo Trucco | Aravinda Chakravarti

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JOURNAL ARTICLE published 15 September 2014 in Human Molecular Genetics