Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 18

Results: 15

Shorter telomere length, higher telomerase activity in association with tankyrase gene polymorphism contribute to high-altitude pulmonary edema.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3094, doi. 10.1093/hmg/ddaa205

By:

Miglani, Manjula;
Rain, Manjari;
Pasha, Qadar;
Raj, V Samuel;
Thinlas, Tashi;
Mohammad, Ghulam;
Gupta, Archana;
Pandey, Ramendra Pati;
Vibhuti, Arpana

Publication type:

Article

Aberrant early growth of individual trigeminal sensory and motor axons in a series of mouse genetic models of 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3081, doi. 10.1093/hmg/ddaa199

By:

Motahari, Zahra;
Maynard, Thomas M;
Popratiloff, Anastas;
Moody, Sally A;
LaMantia, Anthony-S

Publication type:

Article

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3054, doi. 10.1093/hmg/ddaa198

By:

Zha, Congyao;
Farah, Carole A;
Holt, Richard J;
Ceroni, Fabiola;
Al-Abdi, Lama;
Thuriot, Fanny;
Khan, Arif O;
Helaby, Rana;
Lévesque, Sébastien;
Alkuraya, Fowzan S;
Kraus, Alison;
Ragge, Nicola K;
Sossin, Wayne S

Publication type:

Article

Loss of Anks6 leads to YAP deficiency and liver abnormalities.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3064, doi. 10.1093/hmg/ddaa197

By:

Airik, Merlin;
Schüler, Markus;
McCourt, Blake;
Weiss, Anna-Carina;
Herdman, Nathan;
Lüdtke, Timo H;
Widmeier, Eugen;
Stolz, Donna B;
Nejak-Bowen, Kari N;
Yimlamai, Dean;
Wu, Yijen L;
Kispert, Andreas;
Airik, Rannar;
Hildebrandt, Friedhelm

Publication type:

Article

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3044, doi. 10.1093/hmg/ddaa196

By:

Loupe, Jacob M;
Pinto, Ricardo Mouro;
Kim, Kyung-Hee;
Gillis, Tammy;
Mysore, Jayalakshmi S;
Andrew, Marissa A;
Kovalenko, Marina;
Murtha, Ryan;
Seong, IhnSik;
Gusella, James F;
Kwak, Seung;
Howland, David;
Lee, Ramee;
Lee, Jong-Min;
Wheeler, Vanessa C;
MacDonald, Marcy E

Publication type:

Article

FKBP8 variants are risk factors for spina bifida.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3132, doi. 10.1093/hmg/ddaa211

By:

Tian, Tian;
Cao, Xuanye;
Kim, Sung-Eun;
Lin, Ying Linda;
Steele, John W;
Cabrera, Robert M;
Karki, Menuka;
Yang, Wei;
Marini, Nicholas J;
Hoffman, Ethan N;
Han, Xiao;
Hu, Cindy;
Wang, Linlin;
Wlodarczyk, Bogdan J;
Shaw, Gary M;
Ren, Aiguo;
Finnell, Richard H;
Lei, Yunping

Publication type:

Article

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3122, doi. 10.1093/hmg/ddaa195

By:

Micale, Lucia;
Cialfi, Samantha;
Fusco, Carmela;
Cinque, Luigia;
Castellana, Stefano;
Biagini, Tommaso;
Talora, Claudio;
Notarangelo, Angelantonio;
Bisceglia, Luigi;
Taruscio, Domenica;
Salvatore, Marco;
Castori, Marco

Publication type:

Article

Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3032, doi. 10.1093/hmg/ddaa194

By:

Zampeta, F Isabella;
Sonzogni, Monica;
Niggl, Eva;
Lendemeijer, Bas;
Smeenk, Hilde;
Vrij, Femke M S de;
Kushner, Steven A;
Distel, Ben;
Elgersma, Ype

Publication type:

Article

Abundance and localization of human UBE3A protein isoforms.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3021, doi. 10.1093/hmg/ddaa191

By:

Sirois, Carissa L;
Bloom, Judy E;
Fink, James J;
Gorka, Dea;
Keller, Steffen;
Germain, Noelle D;
Levine, Eric S;
Chamberlain, Stormy J

Publication type:

Article

Integrative analysis of scRNA-seq and GWAS data pinpoints periportal hepatocytes as the relevant liver cell types for blood lipids.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3145, doi. 10.1093/hmg/ddaa188

By:

Hao, Xingjie;
Wang, Kai;
Dai, Chengguqiu;
Ding, Zeyang;
Yang, Wei;
Wang, Chaolong;
Cheng, Shanshan

Publication type:

Article

Genetics and geography of leukocyte telomere length in sub-Saharan Africans.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3014, doi. 10.1093/hmg/ddaa187

By:

Hunt, Steven C;
Hansen, Matthew E B;
Verhulst, Simon;
McQuillan, Michael A;
Beggs, William;
Lai, Tsung-Po;
Mokone, Gaonyadiwe G;
Mpoloka, Sununguko Wata;
Meskel, Dawit Wolde;
Belay, Gurja;
Nyambo, Thomas B;
Abnet, Christian C;
Yeager, Meredith;
Chanock, Stephen J;
Province, Michael A;
Williams, Scott M;
Aviv, Abraham;
Tishkoff, Sarah A

Publication type:

Article

The amino acid transporter Slc7a5 regulates the mTOR pathway and is required for granule cell development.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3003, doi. 10.1093/hmg/ddaa186

By:

Sokolov, Aidan M;
Holmberg, Jennie C;
Feliciano, David M

Publication type:

Article

The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3107, doi. 10.1093/hmg/ddaa183

By:

Chen, Vivian;
Moncalvo, Malik;
Tringali, Dominic;
Tagliafierro, Lidia;
Shriskanda, Ahila;
Ilich, Ekaterina;
Dong, Wendy;
Kantor, Boris;
Chiba-Falek, Ornit

Publication type:

Article

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 2989, doi. 10.1093/hmg/ddaa166

By:

Kuht, Helen J;
Han, Jinu;
Maconachie, Gail D E;
Park, Sung Eun;
Lee, Seung-Tae;
McLean, Rebecca;
Sheth, Viral;
Hisaund, Michael;
Dawar, Basu;
Sylvius, Nicolas;
Mahmood, Usman;
Proudlock, Frank A;
Gottlob, Irene;
Lim, Hyun Taek;
Thomas, Mervyn G

Publication type:

Article

Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 18, p. 3154, doi. 10.1093/hmg/ddaa155

By:

Simcoe, Mark J;
Khawaja, Anthony P;
Hysi, Pirro G;
Hammond, Christopher J;
Consortium, UK Biobank Eye and Vision

Publication type:

Article