Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 3/4

Results: 15

SNP-adjacent super enhancer network mediates enhanced osteogenic differentiation of MSCs in ankylosing spondylitis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 277, doi. 10.1093/hmg/ddaa272

By:

Yu, Wenhui;
Chen, Keng;
Ye, Guiwen;
Wang, Shan;
Wang, Peng;
Li, Jinteng;
Zheng, Guan;
Liu, Wenjie;
Lin, Jiajie;
Su, Zepeng;
Che, Yunshu;
Ye, Feng;
Ma, Mengjun;
Xie, Zhongyu;
Shen, Huiyong

Publication type:

Article

Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 294, doi. 10.1093/hmg/ddab049

By:

Konuma, Takahiro;
Ogawa, Kotaro;
Okada, Yukinori

Publication type:

Article

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 265, doi. 10.1093/hmg/ddab040

By:

Panfili, Eleonora;
Mondanelli, Giada;
Orabona, Ciriana;
Belladonna, Maria L;
Gargaro, Marco;
Fallarino, Francesca;
Orecchini, Elena;
Prontera, Paolo;
Proietti, Elisa;
Frontino, Giulio;
Tirelli, Eva;
Iacono, Alberta;
Vacca, Carmine;
Puccetti, Paolo;
Grohmann, Ursula;
Esposito, Susanna;
Pallotta, Maria T

Publication type:

Article

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 135, doi. 10.1093/hmg/ddaa283

By:

Jung, Roy;
Lee, Yejin;
Barker, Douglas;
Correia, Kevin;
Shin, Baehyun;
Loupe, Jacob;
Collins, Ryan L;
Lucente, Diane;
Ruliera, Jayla;
Gillis, Tammy;
Mysore, Jayalakshmi S;
Rodan, Lance;
Picker, Jonathan;
Lee, Jong-Min;
Howland, David;
Lee, Ramee;
Kwak, Seung;
MacDonald, Marcy E;
Gusella, James F;
Seong, Ihn Sik

Publication type:

Article

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 234, doi. 10.1093/hmg/ddab039

By:

Bentley-Ford, Melissa R;
Engle, Staci E;
Clearman, Kelsey R;
Haycraft, Courtney J;
Andersen, Reagan S;
Croyle, Mandy J;
Rains, Addison B;
Berbari, Nicolas F;
Yoder, Bradley K

Publication type:

Article

Dementia with Lewy bodies—associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 247, doi. 10.1093/hmg/ddab036

By:

Psol, Maryna;
Darvas, Sofia Guerin;
Leite, Kristian;
Mahajani, Sameehan U;
Bähr, Mathias;
Kügler, Sebastian

Publication type:

Article

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 226, doi. 10.1093/hmg/ddab035

By:

Materna-Kiryluk, Anna;
Pollak, Agnieszka;
Gawalski, Karol;
Szczawinska-Poplonyk, Aleksandra;
Rydzynska, Zuzanna;
Sosnowska, Anna;
Cukrowska, Bożena;
Gasperowicz, Piotr;
Konopka, Ewa;
Pietrucha, Barbara;
Grzywa, Tomasz M;
Banaszak-Ziemska, Magdalena;
Niedziela, Marek;
Skalska-Sadowska, Jolanta;
Stawiński, Piotr;
Śladowski, Dariusz;
Nowis, Dominika;
Ploski, Rafal

Publication type:

Article

Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 213, doi. 10.1093/hmg/ddab034

By:

Ishida, Yamato;
Kobayashi, Takuya;
Chiba, Shuhei;
Katoh, Yohei;
Nakayama, Kazuhisa

Publication type:

Article

Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 305, doi. 10.1093/hmg/ddab029

By:

Mulford, Ashley J;
Wing, Claudia;
Dolan, M Eileen;
Wheeler, Heather E

Publication type:

Article

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 198, doi. 10.1093/hmg/ddab025

By:

Ramadesikan, Swetha;
Skiba, Lisette;
Lee, Jennifer;
Madhivanan, Kayalvizhi;
Sarkar, Daipayan;
Fuente, Agustina De La;
Hanna, Claudia B;
Terashi, Genki;
Hazbun, Tony;
Kihara, Daisuke;
Aguilar, R Claudio

Publication type:

Article

APOL1 risk variants affect podocyte lipid homeostasis and energy production in focal segmental glomerulosclerosis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 182, doi. 10.1093/hmg/ddab022

By:

Ge, Mengyuan;
Molina, Judith;
Ducasa, G Michelle;
Mallela, Shamroop K;
Santos, Javier Varona;
Mitrofanova, Alla;
Kim, Jin-Ju;
Liu, Xiaochen;
Sloan, Alexis;
Mendez, Armando J;
Banerjee, Santanu;
Liu, Shaoyi;
Szeto, Hazel H;
Shin, Myung K;
Hoek, Maarten;
Kopp, Jeffrey B;
Fontanesi, Flavia;
Merscher, Sandra;
Fornoni, Alessia

Publication type:

Article

Differentiation of glioblastoma stem cells promoted by miR-128 or miR-302a overexpression enhances senescence-associated cytotoxicity of axitinib.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 160, doi. 10.1093/hmg/ddab011

By:

Cardoso, Ana M;
Morais, Catarina M;
Pena, Frederico;
Marante, Tânia;
Cunha, Pedro P;
Jurado, Amália S;
Lima, Maria C Pedroso de

Publication type:

Article

Effect of DNA repair inhibitor AsiDNA on the incidence of telomere fusion in crisis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 172, doi. 10.1093/hmg/ddab008

By:

Subecz, Chloé;
Sun, Jian-Sheng;
Roger, Lauréline

Publication type:

Article

Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 149, doi. 10.1093/hmg/ddaa264

By:

Gibbs, Elizabeth M;
McCourt, Jackie L;
Shin, Kara M;
Hammond, Katherine G;
Marshall, Jamie L;
Crosbie, Rachelle H

Publication type:

Article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 318, doi. 10.1093/hmg/ddaa181

By:

Lee, Youn-Bok;
Baskaran, Pranetha;
Gomez-Deza, Jorge;
Chen, Han-Jou;
Nishimura, Agnes L;
Smith, Bradley N;
Troakes, Claire;
Adachi, Yoshitsugu;
Stepto, Alan;
Petrucelli, Leonard;
Gallo, Jean-Marc;
Hirth, Frank;
Rogelj, Boris;
Guthrie, Sarah;
Shaw, Christopher E

Publication type:

Article