Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 12

Results: 14

E3 ligase Smurf1 protects against misfolded SOD1 in neuronal cells by promoting its K63 ubiquitylation and aggresome formation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2035, doi. 10.1093/hmg/ddac008

By:

Dong, Lei;
Liu, Liqun;
Li, Yang;
Li, Wenxuan;
Zhou, Liying;
Xia, Qin

Publication type:

Article

molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2090, doi. 10.1093/hmg/ddac017

By:

Katsoula, Georgia;
Steinberg, Julia;
Tuerlings, Margo;
Almeida, Rodrigo Coutinho de;
Southam, Lorraine;
Swift, Diane;
Meulenbelt, Ingrid;
Wilkinson, J Mark;
Zeggini, Eleftheria

Publication type:

Article

variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2063, doi. 10.1093/hmg/ddac012

By:

Wahlström, Gudrun;
Heron, Samuel;
Knuuttila, Matias;
Kaikkonen, Elina;
Tulonen, Nea;
Metsälä, Olli;
Löf, Christoffer;
Ettala, Otto;
Boström, Peter J;
Taimen, Pekka;
Poutanen, Matti;
Schleutker, Johanna

Publication type:

Article

Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2010, doi. 10.1093/hmg/ddac005

By:

Quatrana, Andrea;
Morini, Elena;
Tiano, Francesca;
Vancheri, Chiara;
Panarello, Luca;
Romano, Silvia;
Marcotulli, Christian;
Casali, Carlo;
Mariotti, Caterina;
Mongelli, Alessia;
Fichera, Mario;
Rufini, Alessandra;
Condò, Ivano;
Novelli, Giuseppe;
Testi, Roberto;
Amati, Francesca;
Malisan, Florence

Publication type:

Article

Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2078, doi. 10.1093/hmg/ddac007

By:

López-Sánchez, Macarena;
Loucera, Carlos;
Peña-Chilet, María;
Dopazo, Joaquín

Publication type:

Article

Loss-of-function and gain-of-function studies refute the hypothesis that tau protein is causally involved in the pathogenesis of Huntington's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1997, doi. 10.1093/hmg/ddac001

By:

Mees, Isaline;
Li, Shanshan;
Beauchamp, Leah C;
Barnham, Kevin J;
Dutschmann, Mathias;
Hannan, Anthony J;
Renoir, Thibault

Publication type:

Article

Abnormal activation of Yap/Taz contributes to the pathogenesis of tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1979, doi. 10.1093/hmg/ddab374

By:

Terry, Bethany K;
Park, Raehee;
Cho, Seo-Hee;
Crino, Peter B;
Kim, Seonhee

Publication type:

Article

Systematic identification of genomic elements that regulate FCGR2A expression and harbor variants linked with autoimmune disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1946, doi. 10.1093/hmg/ddab372

By:

Dahlqvist, Johanna;
Fulco, Charles P;
Ray, John P;
Liechti, Thomas;
Boer, Carl G de;
Lieb, David J;
Eisenhaure, Thomas M;
Engreitz, Jesse M;
Roederer, Mario;
Hacohen, Nir

Publication type:

Article

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002

By:

Schober, Florian A;
Tang, Jia Xin;
Sergeant, Kate;
Moedas, Marco F;
Zierz, Charlotte M;
Moore, David;
Smith, Conrad;
Lewis, David;
Guha, Nishan;
Hopton, Sila;
Falkous, Gavin;
Lam, Amanda;
Pyle, Angela;
Poulton, Joanna;
Gorman, Gráinne S;
Taylor, Robert W;
Freyer, Christoph;
Wredenberg, Anna

Publication type:

Article

anti-inflammatory mechanism of SAHA in acute pancreatitis through HDAC5/SLIT2/Akt/β-catenin axis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2023, doi. 10.1093/hmg/ddab370

By:

Tong, Jinxue;
Zhou, Jiandang;
Fang, Min;
Wang, Gang;
Fu, Songbin;
Sun, Bei;
Lv, Jiachen

Publication type:

Article

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1970, doi. 10.1093/hmg/ddab368

By:

Han, Ji Hoon;
Ryan, Gavin;
Guy, Alyson;
Liu, Lu;
Quinodoz, Mathieu;
Helbling, Ingrid;
Lai-Cheong, Joey E;
Consortium, Genomics England Research;
Barwell, Julian;
Folcher, Marc;
McGrath, John A;
Moss, Celia;
Rivolta, Carlo

Publication type:

Article

Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1921, doi. 10.1093/hmg/ddab362

By:

Sanchez-Martin, Irene;
Magalhães, Pedro;
Ranjzad, Parisa;
Fatmi, Ahmed;
Richard, Fabrice;
Manh, Thien Phong Vu;
Saurin, Andrew J;
Feuillet, Guylène;
Denis, Colette;
Woolf, Adrian S;
Schanstra, Joost P;
Zürbig, Petra;
Caubit, Xavier;
Fasano, Laurent

Publication type:

Article

Corrigendum to: DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 2106, doi. 10.1093/hmg/ddab346

By:

Lepagnol-Bestel, Aude-Marie;
Zvara, Agnes;
Maussion, Gilles;
Quignon, Frédérique;
Ngimbous, Bedel;
Ramoz, Nicolas;
Imbeaud, Sandrine;
Loe-Mie, Yann;
Benihoud, Karim;
Agier, Nicolas;
Salin, Paul A;
Cardona, Ana;
Khung-Savatovsky, Suonavy;
Kallunki, Pekka;
Delabar, Jean-Maurice;
Puskas, Laszlo G;
Delacroix, Hervé;
Aggerbeck, Lawrence;
Delezoide, Anne-Lise;
Delattre, Olivier

Publication type:

Article

Different risk genes contribute to clear cell and non-clear cell renal cell carcinoma in 1532 Japanese patients and 5996 controls.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 12, p. 1962, doi. 10.1093/hmg/ddab345

By:

Sekine, Yuya;
Iwasaki, Yusuke;
Aoi, Tomomi;
Endo, Mikiko;
Hirata, Makoto;
Kamatani, Yoichiro;
Matsuda, Koichi;
Sugano, Kokichi;
Yoshida, Teruhiko;
Murakami, Yoshinori;
Fukui, Tomohiro;
Akamatsu, Shusuke;
Ogawa, Osamu;
Nakagawa, Hidewaki;
Numakura, Kazuyuki;
Narita, Shintaro;
Habuchi, Tomonori;
Momozawa, Yukihide

Publication type:

Article