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Human Molecular Genetics container_b6edj2e2zzf77igiepykq3vzii

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Showing first 25 out of 13,432 results

Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human

Nico Ruf, Sylvia Bähring, Danuta Galetzka, Galyna Pliushch, Friedrich C. Luft, Peter Nürnberg, Thomas Haaf, Gavin Kelsey, Ulrich Zechner
2007 | Human Molecular Genetics
doi:10.1093/hmg/ddm216   pmid:17704508  

LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model

Javier Alegre-Abarrategui, Helen Christian, Michele M.P. Lufino, Ruxandra Mutihac, Lara Lourenço Venda, Olaf Ansorge, Richard Wade-Martins
2009 | Human Molecular Genetics
doi:10.1093/hmg/ddp346   pmcid:PMC2758136   wikidata:Q24656256  

Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight

Jessica Tyrrell, Ville Huikari, Jennifer T. Christie, Alana Cavadino, Rachel Bakker, Marie-Jo A. Brion, Frank Geller, Lavinia Paternoster, Ronny Myhre, Catherine Potter, Paul C.D. Johnson, Shah Ebrahim (+31 others)
2012 | Human Molecular Genetics
doi:10.1093/hmg/dds372   pmcid:PMC3516066   wikidata:Q36450086  

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons

Seungmin Lee, Fredrik H. Sterky, Arnaud Mourier, Mügen Terzioglu, Staffan Cullheim, Lars Olson, Nils-Göran Larsson
2012 | Human Molecular Genetics
doi:10.1093/hmg/dds352   pmid:22914740   wikidata:Q48401711  

Stimulation of S1PR5 with A-971432, a selective agonist, preserves blood–brain barrier integrity and exerts therapeutic effect in an animal model of Huntington's disease

Alba Di Pardo, Salvatore Castaldo, Enrico Amico, Giuseppe Pepe, Federico Marracino, Luca Capocci, Alfredo Giovannelli, Michele Madonna, Jeroen van Bergeijk, Fabio Buttari, Elizabeth van der Kam, Vittorio Maglione
2018 | Human Molecular Genetics
doi:10.1093/hmg/ddy153   pmid:29688337   wikidata:Q52567307  

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

Min Peng, Julian Ostrovsky, Young Joon Kwon, Erzsebet Polyak, Joseph Licata, Mai Tsukikawa, Eric Marty, Jeffrey Thomas, Carolyn A. Felix, Rui Xiao, Zhe Zhang, David L. Gasser (+2 others)
2015 | Human Molecular Genetics
doi:10.1093/hmg/ddv207   pmcid:PMC4527487   wikidata:Q35924054  

Rab11 rescues synaptic dysfunction and behavioural deficits in a Drosophila model of Huntington's disease

Joern R. Steinert, Susanna Campesan, Paul Richards, Charalambos P. Kyriacou, Ian D. Forsythe, Flaviano Giorgini
2012 | Human Molecular Genetics
doi:10.1093/hmg/dds117   pmcid:PMC3373239   wikidata:Q42098044  

Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci

Niha Zubair, Mariaelisa Graff, Jose Luis Ambite, William S. Bush, Gleb Kichaev, Yingchang Lu, Ani Manichaikul, Wayne H-H. Sheu, Devin Absher, Themistocles L. Assimes, Suzette J. Bielinski, Erwin P. Bottinger (+45 others)
2016 | Human Molecular Genetics
doi:10.1093/hmg/ddw358   pmcid:PMC5721937   wikidata:Q30252583  

The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development

Sara Santambrogio, Alessandra Ricca, Claudio Maderna, Alessandro Ieraci, Massimo Aureli, Sandro Sonnino, Willem Kulik, Patrizia Aimar, Luca Bonfanti, Sabata Martino, Angela Gritti
2012 | Human Molecular Genetics
doi:10.1093/hmg/dds313   pmid:22859505   wikidata:Q45880998  

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, Simona Saredi, Vandana A. Gupta, Christine M. Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora (+3 others)
2014 | Human Molecular Genetics
doi:10.1093/hmg/ddu296   pmcid:PMC4189906   wikidata:Q30590282  

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

Youling Guo, Larry W. Baum, Pak Chung Sham, Virginia Wong, Ping Wing Ng, Colin Hiu Tung Lui, Ngai Chuen Sin, Tak Hong Tsoi, Clara S.M. Tang, Johnny S.H. Kwan, Benjamin H.K. Yip, Su-Mei Xiao (+5 others)
2011 | Human Molecular Genetics
doi:10.1093/hmg/ddr550   pmid:22116939  

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Juliane Ramser, Fatima E. Abidi, Celine A. Burckle, Claus Lenski, Helga Toriello, Gaiping Wen, Herbert A. Lubs, Stefanie Engert, Roger E. Stevenson, Alfons Meindl, Charles E. Schwartz, Genevieve Nguyen
2005 | Human Molecular Genetics
doi:10.1093/hmg/ddi094   pmid:15746149   wikidata:Q24297376  

Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function

Eliana D Weisz, Atif Towheed, Rachel E Monyak, Meridith S Toth, Douglas C Wallace, Thomas A Jongens
2017 | Human Molecular Genetics
doi:10.1093/hmg/ddx387   pmcid:PMC5886180   wikidata:Q47652628  

Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis

Shuang-Xia Zhao, Li-Qiong Xue, Wei Liu, Zhao-Hui Gu, Chun-Ming Pan, Shao-Ying Yang, Ming Zhan, Hai-Ning Wang, Jun Liang, Guan-Qi Gao, Xiao-Mei Zhang, Guo-Yue Yuan (+16 others)
2013 | Human Molecular Genetics
doi:10.1093/hmg/ddt183   pmid:23612905   wikidata:Q39672021  
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