Results 131 to 140 of about 68,677 (180)

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source

A Novel CFA3 Locus Encompassing <i>KCNIP4</i> Is Associated with Idiopathic Epilepsy in Siberian Huskies. [PDF]

Genes (Basel)
Smith TA, Potisk L.
europepmc   +1 more source

Phase Separation of TRIM21 Modulates PTPN14 Stability to Drive Flow‐Dependent Endothelial Activation and Atherogenesis

Advanced Science, EarlyView.
Disturbed flow promotes the formation of TRIM21‐rich biomolecular droplets, which concentrate TRIM21 and PTPN14 and facilitate their SPRY‐FERM interaction (illustrated by the TRIM21 D355‐PTPN14 R132 salt bridge). This condensate‐driven proximity enables TRIM21 to catalyze K48‐linked polyubiquitination of PTPN14 at lysine 956, leading to proteasome ...
Xue He, Qiannan Ma, Xue Wang, Jiaxu Mang, Chufeng Li, Bingjun Wu, Liu Yao, Yequn Chen, Qiankun Bao, Yi Zhu, Jinlong He   +10 more
wiley   +1 more source

Acquisition of ampliconic sequences marks a selfish mouse t-haplotype. [PDF]

Nat Commun
Swanepoel CM, Wang G, Zhang L, Brändl B, Bauer H, Tsaytler P, Müller FJ, Herrmann BG, Mueller JL.   +8 more
europepmc   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Assembling unmapped reads reveals hidden variation in South Asian genomes. [PDF]

Nat Commun
Das A, Biddanda A, McCoy RC, Schatz MC.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Challenges in predicting chromatin accessibility differences between species. [PDF]

NAR Genom Bioinform
Stephen AZM, Raje A, Sestili HH, Wirthlin ME, Lawler AJ, Brown AR, Ma J, Stauffer WR, Pfenning AR, Kaplow IM.   +9 more
europepmc   +1 more source