Results 181 to 190 of about 557,287 (304)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots. [PDF]

Nat Commun
Diller L, Cherkerzian S, Cinelli AE, Housman D, Gillani R, Hamilton KV, Yeh JM, Bhattacharjee A, Parad RB.   +8 more
europepmc   +1 more source

Periostin‐CCL3 Feedforward Signaling Loop Promotes Cardiac Fibrosis and Cardiomyocyte Necroptosis in Arrhythmogenic Cardiomyopathy

Advanced Science, EarlyView.
POSTN‐CCL3 signaling forms a feed‐forward circuit between cardiomyocytes and cardiac myofibroblasts in arrhythmogenic cardiomyopathy. POSTN activates JNK/RIP3‐dependent necroptotic signaling and JNK/ETS2‐induced CCL3 expression in cardiomyocytes. In turn, CCL3‐CCR5 signaling in cardiac myofibroblasts activates NF‐κB/p65 and promotes POSTN expression ...
Tiantian Wu, Ruotong Li, Xiaoyue Zhang, Dandan Chen, Jianmeng Yang, Mengmeng Li, Yuhan Yin, Ya Wang, Yuqiu Tian, Haoling Yan, Dan Cui, Jiangping Song, Gaoliang Ouyang   +12 more
wiley   +1 more source

FEVER IN THE NEWBORN [PDF]

BMJ, 1912
openaire   +2 more sources

Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics. [PDF]

Med J Aust
Garvey G, Norris S, Scarfe J, Lyons L.
europepmc   +1 more source

Targeted Lysosomal Degradation of Extracellular and Membrane Proteins: From Receptor Hijacking to Programmable Endolysosomal Routing

Advanced Science, EarlyView.
Targeted chimeric degraders engage extracellular or membrane proteins and endocytosable cell‐surface receptors, forming ternary complexes that induce receptor‐mediated internalization. Following endocytosis, post‐endocytic sorting—not internalization alone—determines target fate.
Ke Liu, Xiyan Wang, Xiaozhen Liu, Chaoqi He, Da Qian, Xuli Meng, Liquan Zhu   +6 more
wiley   +1 more source

Newborn screening in Karnataka: A scoping review of the landscape. [PDF]

PLOS Glob Public Health
Kuriakose LM, Mohan D, Choudhury MC.
europepmc   +1 more source

An Initiative to Prevent Newborn Drops through the Implementation of a Prevention Bundle at a Children's Hospital. [PDF]

Pediatr Qual Saf
Birkinshaw HM, Owens AR, Gilchrist AC, Barrows J, Lusk J.   +4 more
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

Correction: Quality of maternal and newborn care, perinatal mental health and the emotional birth experience of women: findings of the IMAgiNE EURO study in Belgium. [PDF]

BMJ Open
europepmc   +1 more source