Results 201 to 210 of about 3,861,183 (367)

Chromosomal fragility and human genetic disorders

, 2000
Sujatha Baskaran, Vani Brahmachari
openalex   +2 more sources

Six-year experience of preimplantation genetic diagnosis (PGD) for single gene disorders and chromosomal abnormalities at CHA Institute [PDF]

, 2002
T.J. Kim, K.Y. Cha
openalex   +1 more source

Polo‐Like Kinase 1 Phosphorylation Tunes the Functional Viscoelastic Properties of the Centrosome Scaffold

Advanced Science, EarlyView.
To enable mitotic spindle assembly during cell division, centrosomes must bear tensile stresses generated by microtubule‐mediated pulling forces. Micro‐rheology reveals that PLK‐1 phosphorylation of the scaffold protein SPD‐5 tunes the viscoelasticity, size, and morphology of the centrosome scaffold in C. elegans.
Matthew Amato, June Ho Hwang, Manolo U. Rios, Nicole E. Familiari, Michael K. Rosen, Jeffrey B. Woodruff   +5 more
wiley   +1 more source

A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Iakovleva AS, Markova ZG, Bessonova LA, Shilova NV.   +3 more
europepmc   +1 more source

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

Advanced Science, EarlyView.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen, Xiaochen Wang, Hangping Fan, Yaxun Sun, Tingyu Gong, Hangyuan Qiu, Jue Wang, Ziwei Pan, Yanna Dang, Hongkun Wang, Danni Zhou, Tianyi Zhu, Hao Wang, Xianzhen Chen, Lizhen Xu, Jun Su, Fan Yang, Yiquan Tang, Xuguang Li, Bing Yang, Lenan Zhuang, Wei Wang, Chenyang Jiang, Ping Liang   +23 more
wiley   +1 more source

High-throughput assessment of <i>FMR1</i> and <i>SNRPN</i> methylation-based newborn screening using IsoPure and QIAcube HT systems. [PDF]

Epigenomics
Cartagena C, Alshawsh M, Bui MQ, Gamage D, Thakor RP, Pitt J, Greaves RF, Wall M, Saffery R, Amor DJ, Godler DE.   +10 more
europepmc   +1 more source

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder

, 2000
Kenjiro Kosaki, Taichi A. Suzuki, Rika Kosaki, Hiroshi Yoshihashi, Masayuki Itoh, Yu-ichi Goto, Naoki Matsuo   +6 more
openalex   +1 more source

Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q [PDF]

, 2003
Steven P. Hamilton, Abby J. Fyer, Martina Durner, Gary A. Heiman, Ada Baisre, Susan E. Hodge, James A. Knowles, Myrna M. Weissman   +7 more
openalex   +1 more source

Retinitis Pigmentosa‐Associated Gene TRIM49 Regulates ULK1‐Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium

Advanced Science, EarlyView.
Based on next‐generation sequencing data of retinitis pigmentosa (RP) patients and controls, this study identifies TRIM49 as a novel gene for autosomal recessive RP. TRIM49 is specifically expressed in the retinal pigment epithelium (RPE) of human retina.
Zhen Yi, Chaojuan Wen, Han Du, Yingwei Wang, Shuowei Chen, Jie Liu, Shuhan Zhang, Junwen Wang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Yi Jiang, Jiamin Ouyang, Panfeng Wang, James Fielding Hejtmancik, Wenmin Sun, Huangxuan Shen, Qingjiong Zhang   +17 more
wiley   +1 more source

Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report. [PDF]

Mol Cytogenet
Zhang LJ, Liu WL, Shao SY, Xu Y, Zhou L.
europepmc   +1 more source