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
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
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
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
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