Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 7

Results: 14

CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1205, doi. 10.1093/hmg/ddaa046

By:

Lukacs, Marshall;
Blizzard, Lauren E.;
Stottmann, Rolf W.

Publication type:

Article

Single cell transcriptome profiling of the human alcohol-dependent brain.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1144, doi. 10.1093/hmg/ddaa038

By:

Brenner, Eric;
Tiwari, Gayatri R.;
Kapoor, Manav;
Yunlong Liu;
Brock, Amy;
Mayfield, R. Dayne

Publication type:

Article

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1107, doi. 10.1093/hmg/ddaa009

By:

Elorza-Vidal, Xabier;
Xicoy-Espaulella, Efren;
Pla-Casillanis, Adrià;
Alonso-Gardón, Marta;
Gaitán-Peñas, Héctor;
Engel-Pizcueta, Carolyn;
Fernández-Recio, Juan;
Estévez, Raúl

Publication type:

Article

Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1192, doi. 10.1093/hmg/ddaa048

By:

Christians, Anne;
Weiss, Anna-Carina;
Martens, Helge;
Klopf, Maximilian Georg;
Hennies, Imke;
Haffner, Dieter;
Kispert, Andreas;
Weber, Ruthild G.

Publication type:

Article

DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1168, doi. 10.1093/hmg/ddaa037

By:

Leandro, João;
Dodatko, Tetyana;
Aten, Jan;
Nemeria, Natalia S.;
Xu Zhang;
Frank Jordan;
Hendrickson, Ronald C.;
Sanchez, Roberto;
Chunli Yu;
DeVita, Robert J.;
Houten, Sander M.

Publication type:

Article

DNA methylation QTL analysis identifies new regulators of human longevity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1154, doi. 10.1093/hmg/ddaa033

By:

Szymczak, Silke;
Dose, Janina;
Torres, Guillermo G.;
Heinsen, Femke-Anouska;
Venkatesh, Geetha;
Datlinger, Paul;
Nygaard, Marianne;
Mengel-From, Jonas;
Flachsbart, Friederike;
Klapper, Wolfram;
Christensen, Kaare;
Lieb, Wolfgang;
Schreiber, Stefan;
Häsler, Robert;
Bock, Christoph;
Franke, Andre;
Nebel, Almut

Publication type:

Article

Functional cross talk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1083, doi. 10.1093/hmg/ddz250

By:

Raghunandan, Maya;
Jung Eun Yeo;
Walter, Ryan;
Kai Saito;
Harvey, Adam J.;
Ittershagen, Stacie;
Lee, Eun-A.;
Jihyeon Yang;
Hoatlin, Maureen E.;
Bielinsky, Anja K.;
Hendrickson, Eric A.;
Schärer, Orlando;
Sobeck, Alexandra

Publication type:

Article

Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson’s disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1180, doi. 10.1093/hmg/ddaa039

By:

Brazdis, Razvan-Marius;
Alecu, Julian E.;
Marsch, Daniel;
Dahms, Annika;
Simmnacher, Katrin;
Lörentz, Sandra;
Brendler, Anna;
Schneider, Yanni;
Marxreiter, Franz;
Roybon, Laurent;
Winner, Beate;
Wei Xiang;
Prots, Iryna

Publication type:

Article

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1132, doi. 10.1093/hmg/ddaa032

By:

Ansar, Muhammad;
Ebstein, Frédéric;
Özkoç, Hayriye;
Paracha, Sohail A.;
Iwaszkiewicz, Justyna;
Gesemann, Matthias;
Zoete, Vincent;
Ranza, Emmanuelle;
Santoni, Federico A.;
Sarwar, Muhammad T.;
Ahmed, Jawad;
Krüger, Elke;
Bachmann-Gagescu, Ruxandra;
Antonarakis, Stylianos E.

Publication type:

Article

CHCHD2 harboring Parkinson’s disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1096, doi. 10.1093/hmg/ddaa028

By:

Cornelissen, Tom;
Spinazzi, Marco;
Martin, Shaun;
Imberechts, Dorien;
Vangheluwe, Peter;
Bird, Matthew;
De Strooper, Bart;
Vandenberghe, Wim

Publication type:

Article

A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1121, doi. 10.1093/hmg/ddaa018

By:

Yanshu Wang;
Smallwood, Philip M.;
Williams, John;
Nathans, Jeremy

Publication type:

Article

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1068, doi. 10.1093/hmg/ddz231

By:

Alankarage, Dimuthu;
Szot, Justin O.;
Pachter, Nick;
Slavotinek, Anne;
Selleri, Licia;
Shieh, Joseph T.;
Winlaw, David;
Giannoulatou, Eleni;
Chapman, Gavin;
Dunwoodie, Sally L.

Publication type:

Article

Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1057, doi. 10.1093/hmg/ddz226

By:

van de Geijn, Bryce;
Finucane, Hilary;
Gazal, Steven;
Hormozdiari, Farhad;
Amariuta, Tiffany;
Xuanyao Liu;
Gusev, Alexander;
Po-Ru Loh;
Reshef, Yakir;
Kichaev, Gleb;
Raychauduri, Soumya;
Price, Alkes L.

Publication type:

Article

Sex-specific autosomal genetic effects across 26 human complex traits.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1218, doi. 10.1093/hmg/ddaa040

By:

Lin, Wan-Yu;
Chan, Chang-Chuan;
Liu, Yu-Li;
Yang, Albert C;
Tsai, Shih-Jen;
Kuo, Po-Hsiu

Publication type:

Article