Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 23

Results: 12

Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2362, doi. 10.1093/hmg/ddab202

By:

Lin, Eugene;
Tsai, Shih-Jen;
Kuo, Po-Hsiu;
Liu, Yu-Li;
Yang, Albert C;
Conomos, Matthew P;
Thornton, Timothy A

Publication type:

Article

Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2347, doi. 10.1093/hmg/ddab199

By:

Gartz, Melanie;
Beatka, Margaret;
Prom, Mariah J;
Strande, Jennifer L;
Lawlor, Michael W

Publication type:

Article

MiR-200c-based metabolic modulation in glioblastoma cells as a strategy to overcome tumor chemoresistance.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2315, doi. 10.1093/hmg/ddab193

By:

Cardoso, Ana M;
Morais, Catarina M;
Sousa, Madalena;
Rebelo, Olinda;
Tão, Hermínio;
Barbosa, Marcos;
Lima, Maria C Pedroso de;
Jurado, Amália S

Publication type:

Article

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2300, doi. 10.1093/hmg/ddab192

By:

Zhang, Yongqiang;
Tachtsidis, Georgios;
Schob, Claudia;
Koko, Mahmoud;
Hedrich, Ulrike B S;
Lerche, Holger;
Lemke, Johannes R;
Haeringen, Arie van;
Ruivenkamp, Claudia;
Prescott, Trine;
Tveten, Kristian;
Gerstner, Thorsten;
Pruniski, Brianna;
DiTroia, Stephanie;
VanNoy, Grace E;
Rehm, Heidi L;
McLaughlin, Heather;
Bolz, Hanno J;
Zechner, Ulrich;
Bryant, Emily

Publication type:

Article

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2286, doi. 10.1093/hmg/ddab190

By:

Burger, Joyce;
Bogunovic, Natalija;
Wagenaar, Nathalie P de;
Liu, Hui;
Vliet, Nicole van;
IJpma, Arne;
Maugeri, Alessandra;
Micha, Dimitra;
Verhagen, Hence J M;
Hagen, Timo L M ten;
Majoor-Krakauer, Danielle;
van der Pluijm, Ingrid;
Essers, Jeroen;
Yeung, Kak K

Publication type:

Article

New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2272, doi. 10.1093/hmg/ddab189

By:

Bonito, Maria;
D'Atanasio, Eugenia;
Ravasini, Francesco;
Cariati, Selene;
Finocchio, Andrea;
Novelletto, Andrea;
Trombetta, Beniamino;
Cruciani, Fulvio

Publication type:

Article

Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2332, doi. 10.1093/hmg/ddab188

By:

Kim, Tae-Eun;
Newman, Andrew J;
Imberdis, Thibaut;
Brontesi, Lisa;
Tripathi, Arati;
Ramalingam, Nagendran;
Fanning, Saranna;
Selkoe, Dennis;
Dettmer, Ulf

Publication type:

Article

SWI/SNF complex regulates the expression of miR-222, a tumor suppressor microRNA in lung adenocarcinoma.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2263, doi. 10.1093/hmg/ddab187

By:

Peinado, Paola;
Andrades, Alvaro;
Martorell-Marugán, Jordi;
Haswell, Jeffrey R;
Slack, Frank J;
Carmona-Sáez, Pedro;
Medina, Pedro P

Publication type:

Article

Early onset atrial lesions in a patient with a novel LMNA frameshift mutation.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2255, doi. 10.1093/hmg/ddab186

By:

Lin, Yongping;
Liu, Hailei;
Cui, Chang;
Lin, Zhiqiao;
Zhang, Yike;
Zhu, Yue;
Ju, Weizhu;
Chen, Minglong

Publication type:

Article

CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2240, doi. 10.1093/hmg/ddab185

By:

Wang, Weili;
Tian, Shixong;
Nie, Hongchuan;
Tu, Chaofeng;
Liu, Chunyu;
Li, Yong;
Li, Dongyan;
Yang, Xiaoxuan;
Meng, Lanlan;
Hu, Tongyao;
Zhang, Qianjun;
Du, Juan;
Fan, Liqing;
Lu, Guangxiu;
Lin, Ge;
Zhang, Feng;
Tan, Yue-Qiu

Publication type:

Article

Identifying oligodendrocyte enhancers governing Plp1 expression.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2225, doi. 10.1093/hmg/ddab184

By:

Kim, Dongkyeong;
An, Hongjoo;
Fan, Chuandong;
Park, Yungki

Publication type:

Article

CHARGE syndrome and related disorders: a mechanistic link.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 23, p. 2215, doi. 10.1093/hmg/ddab183

By:

Ufartes, Roser;
Grün, Regina;
Salinas, Gabriela;
Sitte, Maren;
Kahl, Fritz;
Wong, Monica T Y;
Ravenswaaij-Arts, Conny M A van;
Pauli, Silke

Publication type:

Article