Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 18

Results: 8

High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1734, doi. 10.1093/hmg/ddab139

By:

Sharma, Kavita;
Mishra, Aastha;
Singh, Himanshu N;
Parashar, Deepak;
Alam, Perwez;
Thinlas, Tashi;
Mohammad, Ghulam;
Kukreti, Ritushree;
Syed, Mansoor Ali;
Pasha, M A Qadar

Publication type:

Article

Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1750, doi. 10.1093/hmg/ddab138

By:

Cheung, Mitchell;
Kadariya, Yuwaraj;
Sementino, Eleonora;
Hall, Michael J;
Cozzi, Ilaria;
Ascoli, Valeria;
Ohar, Jill A;
Testa, Joseph R

Publication type:

Article

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1711, doi. 10.1093/hmg/ddab123

By:

Botta, Elena;
Theil, Arjan F;
Raams, Anja;
Caligiuri, Giuseppina;
Giachetti, Sarah;
Bione, Silvia;
Accadia, Maria;
Lombardi, Anita;
Smith, Desiree E C;
Mendes, Marisa I;
Swagemakers, Sigrid M A;
Spek, Peter J van der;
Salomons, Gajja S;
Hoeijmakers, Jan H J;
Yesodharan, Dhanya;
Nampoothiri, Sheela;
Ogi, Tomoo;
Lehmann, Alan R;
Orioli, Donata;
Vermeulen, Wim

Publication type:

Article

Genome-wide gene–diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1773, doi. 10.1093/hmg/ddab109

By:

Westerman, Kenneth E;
Miao, Jenkai;
Chasman, Daniel I;
Florez, Jose C;
Chen, Han;
Manning, Alisa K;
Cole, Joanne B

Publication type:

Article

Fragile X premutation rCGG repeats impair synaptic growth and synaptic transmission at Drosophila larval neuromuscular junction.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1677, doi. 10.1093/hmg/ddab087

By:

Bhat, Sajad A;
Yousuf, Aadil;
Mushtaq, Zeeshan;
Kumar, Vimlesh;
Qurashi, Abrar

Publication type:

Article

Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca<sup>2+</sup> pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1762, doi. 10.1093/hmg/ddab137

By:

Nakajima, Kazuo;
Ishiwata, Mizuho;
Weitemier, Adam Z;
Shoji, Hirotaka;
Monai, Hiromu;
Miyamoto, Hiroyuki;
Yamakawa, Kazuhiro;
Miyakawa, Tsuyoshi;
McHugh, Thomas J;
Kato, Tadafumi

Publication type:

Article

Downregulation of ARID1B, a tumor suppressor in the WNT subgroup medulloblastoma, activates multiple oncogenic signaling pathways.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1721, doi. 10.1093/hmg/ddab134

By:

Deogharkar, Akash;
Singh, Satishkumar Vishram;
Bharambe, Harish Shrikrishna;
Paul, Raikamal;
Moiyadi, Aliasgar;
Goel, Atul;
Shetty, Prakash;
Sridhar, Epari;
Gupta, Tejpal;
Jalali, Rakesh;
Goel, Naina;
Gadewal, Nikhil;
Muthukumar, Sahana;
Shirsat, Neelam Vishwanath

Publication type:

Article

High-fat diet–induced activation of SGK1 promotes Alzheimer's disease–associated tau pathology.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 18, p. 1693, doi. 10.1093/hmg/ddab115

By:

Elahi, Montasir;
Motoi, Yumiko;
Shimonaka, Shotaro;
Ishida, Yoko;
Hioki, Hiroyuki;
Takanashi, Masashi;
Ishiguro, Koichi;
Imai, Yuzuru;
Hattori, Nobutaka

Publication type:

Article