Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 22

Results: 7

Charis Eng, MD, PhD, 1962-2024, In Memoriam.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1929, doi. 10.1093/hmg/ddae140

By:

Davies, Kay;
Wynshaw-Boris, Anthony

Publication type:

Article

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1966, doi. 10.1093/hmg/ddae137

By:

Roos, Anna-Karin;
Stenvall, Erica;
Kockum, Emmy Skelton;
Grönlund, Kornelia Åman;
Alstermark, Helena;
Wuolikainen, Anna;
Andersen, Peter M;
Nordin, Angelica;
Forsberg, Karin M E

Publication type:

Article

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1986, doi. 10.1093/hmg/ddae135

By:

Bajikar, Sameer S;
Sztainberg, Yehezkel;
Trostle, Alexander J;
Tirumala, Harini P;
Wan, Ying-Wooi;
Harrop, Caroline L;
Bengtsson, Jesse D;
Carvalho, Claudia M B;
Pehlivan, Davut;
Suter, Bernhard;
Neul, Jeffrey L;
Liu, Zhandong;
Jafar-Nejad, Paymaan;
Rigo, Frank;
Zoghbi, Huda Y

Publication type:

Article

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1975, doi. 10.1093/hmg/ddae133

By:

Tsujimoto, Takayuki;
Ou, Yushi;
Suzuki, Makoto;
Murata, Yuka;
Inubushi, Toshihiro;
Nagata, Miho;
Ishihara, Yasuki;
Yonei, Ayumi;
Miyashita, Yohei;
Asano, Yoshihiro;
Sakai, Norio;
Sakata, Yasushi;
Ogino, Hajime;
Yamashiro, Takashi;
Kurosaka, Hiroshi

Publication type:

Article

Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1948, doi. 10.1093/hmg/ddae132

By:

Liao, You-Cheng;
Wang, Lu-Hai;
Hung, Mien-Chie;
Cheng, Tzu-Chun;
Lin, Ying-Chi;
Chang, Jungshan;
Tu, Shih-Hsin;
Wu, Chih-Hsiung;
Yen, Yun;
Hsieh, Yi-Chen;
Chen, Li-Ching;
Ho, Yuan-Soon

Publication type:

Article

The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1930, doi. 10.1093/hmg/ddae131

By:

Wu, Feng;
Zhou, Weiguang;
Yue, Zhengchu;
Deng, Xiangyuan;
Kang, Wenqiang;
Yu, Zhiyan;
Zhang, Haixia;
Zhang, Bixin;
Feng, Xianhong;
Xiong, Qiantao;
Chen, Bifeng

Publication type:

Article

Schizophrenia risk-associated SNPs affect expression of microRNA 137 host gene: a postmortem study.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1939, doi. 10.1093/hmg/ddae130

By:

Feng, Ningping;
Mandal, Ajeet;
Jambhale, Ananya;
Narnur, Pranav;
Chen, Gang;
Akula, Nirmala;
Kramer, Robin;
Kolachana, Bhaskar;
Xu, Qing;
McMahon, Francis J;
Lipska, Barbara K;
Auluck, Pavan K;
Marenco, Stefano

Publication type:

Article