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Showing results for ISSN matching 0964-6906

Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3

JOURNAL ARTICLE published 1993 in Human Molecular Genetics

Authors: Y. Shen | K. Holman | N.A. Doggett | D.F. Callen | G.R. Sutherland | R.I. Richards

https://doi.org/10.1093/hmg/2.9.1504 Actions

Cover Page

JOURNAL ARTICLE published 1 February 2015 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddu663 Actions

Elucidation of the complex structure and origin of the human trypsinogen locus triplication

JOURNAL ARTICLE published 1 October 2009 in Human Molecular Genetics

Authors: A. Chauvin | J.-M. Chen | S. Quemener | E. Masson | H. Kehrer-Sawatzki | B. Ohmle | D. N. Cooper | C. Le Marechal | C. Ferec

https://doi.org/10.1093/hmg/ddp308 Actions

Nurr1 repression mediates cardinal features of Parkinson’s disease in α-synuclein transgenic mice

JOURNAL ARTICLE published 28 July 2021 in Human Molecular Genetics

Research funded by Hellenic Ministry of Health (# 398 70/3/11679,FP7/REGPOT-2008-1) | Hellenic General Secretariat of Research and Technology (#650)

Authors: Maria Argyrofthalmidou | Athanasios D Spathis | Matina Maniati | Amalia Poula | Maira A Katsianou | Evangelos Sotiriou | Maria Manousaki | Celine Perier | Ioanna Papapanagiotou | Zeta Papadopoulou-Daifoti | Pothitos M Pitychoutis | Pavlos Alexakos | Miquel Vila | Leonidas Stefanis | Demetrios K Vassilatis

https://doi.org/10.1093/hmg/ddab118 Actions

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome

JOURNAL ARTICLE published 30 April 2021 in Human Molecular Genetics

Research funded by Medical Research Council Doctoral Award (MR/K501311/1) | British Heart Foundation Personal Chair (CH/13/2/30154)

Authors: Kathryn A McGurk | Simon G Williams | Hui Guo | Hugh Watkins | Martin Farrall | Heather J Cordell | Anna Nicolaou | Bernard D Keavney

https://doi.org/10.1093/hmg/ddab002 Actions

Stra13 regulates oxidative stress mediated skeletal muscle degeneration

JOURNAL ARTICLE published 15 November 2009 in Human Molecular Genetics

Authors: Cécile Vercherat | Teng-Kai Chung | Safak Yalcin | Neriman Gulbagci | Suma Gopinadhan | Saghi Ghaffari | Reshma Taneja

https://doi.org/10.1093/hmg/ddp383 Actions

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

JOURNAL ARTICLE published 1 November 2013 in Human Molecular Genetics

Authors: Christine Grill | Kristín Bergsteinsdóttir | Margrét H. Ögmundsdóttir | Vivian Pogenberg | Alexander Schepsky | Matthias Wilmanns | Veronique Pingault | Eiríkur Steingrímsson

https://doi.org/10.1093/hmg/ddt285 Actions

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

JOURNAL ARTICLE published 15 June 2014 in Human Molecular Genetics

Authors: A. Vittori | C. Breda | M. Repici | M. Orth | R. A. C. Roos | T. F. Outeiro | F. Giorgini | E. J. Hollox | the REGISTRY investigators of the European Huntington's Disease Network

https://doi.org/10.1093/hmg/ddu022 Actions

Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates

JOURNAL ARTICLE published 15 May 2011 in Human Molecular Genetics

Authors: Tatsuo Miyamoto | Sean Porazinski | Huijia Wang | Antonia Borovina | Brian Ciruna | Atsushi Shimizu | Tadashi Kajii | Akira Kikuchi | Makoto Furutani-Seiki | Shinya Matsuura

https://doi.org/10.1093/hmg/ddr090 Actions

Genome-wide expression analysis detects eight genes with robust alterations specific to bipolar I disorder: relevance to neuronal network perturbation

JOURNAL ARTICLE published 15 June 2006 in Human Molecular Genetics

Authors: Noriaki Nakatani | Eiji Hattori | Tetsuo Ohnishi | Brian Dean | Yoshimi Iwayama | Izuru Matsumoto | Tadafumi Kato | Noriko Osumi | Teruhiko Higuchi | Shin-Ichi Niwa | Takeo Yoshikawa

https://doi.org/10.1093/hmg/ddl118 Actions

Mammalian Telomerase: Catalytic Subunit and Knockout Mice

JOURNAL ARTICLE published 1 November 1997 in Human Molecular Genetics

Authors: D. Kipling

https://doi.org/10.1093/hmg/6.12.1999 Actions

Effect of diazoxide on Friedreich ataxia models

JOURNAL ARTICLE published 15 March 2018 in Human Molecular Genetics

Authors: Antonella Santoro | Sara Anjomani Virmouni | Eleonora Paradies | Valentina L Villalobos Coa | Sahar Al-Mahdawi | Mee Khoo | Vito Porcelli | Angelo Vozza | Mara Perrone | Nunzio Denora | Franco Taroni | Giuseppe Merla | Luigi Palmieri | Mark A Pook | Carlo M T Marobbio

https://doi.org/10.1093/hmg/ddy016 Actions

Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome

JOURNAL ARTICLE published 5 June 2023 in Human Molecular Genetics

Research funded by National Institute of Child Health and Human Development (P01 HD083157)

Authors: Elizabeth M Paronett | Corey A Bryan | Megan E Maynard | Julia A Goroff | Daniel W Meechan | Anthony-Samuel LaMantia | Thomas M Maynard

https://doi.org/10.1093/hmg/ddad030 Actions

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

JOURNAL ARTICLE published 19 June 2023 in Human Molecular Genetics

Research funded by Michigan Pre-doctoral Training in Genetics Program (GM007544) | National Institutes of Health (GM128836,GM136441,NS108510)

Authors: Rebecca Meyer-Schuman | Sheila Marte | Tyler J Smith | Shawna M E Feely | Marina Kennerson | Garth Nicholson | Mike E Shy | Kristin S Koutmou | Anthony Antonellis

https://doi.org/10.1093/hmg/ddad054 Actions

Avall RFLP of human keratin 10 (KRT-10) detected by PCR

JOURNAL ARTICLE published 1992 in Human Molecular Genetics

Authors: W.H.I. McLean | E.B. Lane

https://doi.org/10.1093/hmg/1.8.659-a Actions

Subscription Page

JOURNAL ARTICLE published 1 February 2013 in Human Molecular Genetics

https://doi.org/10.1093/hmg/dds550 Actions

Population variation in the dinucleotide repeat polymorphism at the D8S360 locus

JOURNAL ARTICLE published 1993 in Human Molecular Genetics

Authors: Kouzin Kamino | Jun Nakura | Koichi Kihara | Lin Ye | Keiko Nagano | Tohru Ohta | Yoshihiro Jinno | Norio Niikawa | Tetsuro Miki | Toshio Ogihara

https://doi.org/10.1093/hmg/2.10.1751 Actions

Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy

JOURNAL ARTICLE published 1 October 2006 in Human Molecular Genetics

Authors: Patrick S. Thomas | Gregory S. Fraley | Vincent Damian | Lillie B. Woodke | Francisco Zapata | Bryce L. Sopher | Stephen R. Plymate | Albert R. La Spada

https://doi.org/10.1093/hmg/ddl226 Actions

Editorial Board

JOURNAL ARTICLE published 15 August 2009 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddp285 Actions

Corrigendum to: Mitophagy activation repairs Leber’s hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival

JOURNAL ARTICLE published 15 January 2020 in Human Molecular Genetics

Authors: Lokendra Kumar Sharma | Meenakshi Tiwari | Neeraj Kumar Rai | Yidong Bai

https://doi.org/10.1093/hmg/ddz224 Actions
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