Results 191 to 200 of about 379,249 (335)

The Chromosome Disorders [PDF]

Postgraduate Medical Journal, 1970
openaire   +1 more source

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males [PDF]

, 2011
Ren-Hua Chung, Deqiong Ma, Kai Wang, Dale J. Hedges, James Jaworski, John R. Gilbert, Michael L. Cuccaro, Harry H. Wright, Ruth K. Abramson, Ioanna Konidari, Patrice L. Whitehead, Gerard D. Schellenberg, Håkon Håkonarson, Jonathan L. Haines, Margaret A. Pericak‐Vance, Eden R. Martin   +15 more
openalex   +1 more source

EGR Proteins Mediate Interferon‐Independent Anti‐HSV‐1 Responses Through Viral and Host Targets

Advanced Science, EarlyView.
Early antiviral responses are typically mediated by interferons. However, during HSV‐1 infection, host early growth response (Egr) genes, which are not interferon‐stimulated genes, are quickly induced by viral protein ICP0. EGR proteins, in turn, suppress viral lytic infection by activating viral latency‐associated (LAT) and host immune regulatory ...
Shuaishuai Wang, Fujun Hou, Xunuo Jin, Yuhang Xiang, Dongli Pan   +4 more
wiley   +1 more source

Identifying new targets in the fight against opioids. [PDF]

Elife
Laezza F.
europepmc   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo <i>F8</i> Variant. [PDF]

Int J Mol Sci
Pshenichnikova O, Salomashkina V, Yastrubinetskaya O, Surin V, Mishina O, Alimova G, Obukhova T, Zozulya N.   +7 more
europepmc   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities. [PDF]

Genome Res
Raeisi Dehkordi S, Jia Z, Estabrook J, Hauenstein J, Miller N, Güleray-Lafci N, Neesen J, Hastie A, Chaubey A, Wing Chun Pang A, Dremsek P, Bafna V.   +11 more
europepmc   +1 more source

Linkage of bipolar affective disorders to markers on chromosome 11p is excluded in a second lateral extension of Amish Pedigree 110

, 1991
David L. Pauls, Daniela S. Gerhard, Lucy G. Lacy, Abram M. Hostetter, Cleona R. Allen, Steven D. Bland, Michele C. LaBuda, Janice A. Egeland   +7 more
openalex   +1 more source

EIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis

Advanced Science, EarlyView.
The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...
Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu   +15 more
wiley   +1 more source