Results 191 to 200 of about 110,880 (279)

A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population? [PDF]

Pediatr Pulmonol
Cheng SY, Sahin B, Abdulrahem N, Eckford PDW, Zysman-Colman Z, Chilvers M, Stephenson AL, Arpin J, Donnelly C, Doyle K, Fernandez S, Filiaggi C, Liu Z, Nowak A, Smith MJ, Stanojevic S.   +15 more
europepmc   +1 more source

Indicators of newborn screening for congenital hypothyroidism in Sri Lanka: program challenges and way forward [PDF]

, 2014
Manjula Hettiarachchi, Sujeewa Amarasena
openalex   +1 more source

Schwann Cell Synthesized Cholesterol Orchestrates Peripheral Nerve Regeneration via Structural and IGF1‐Dependent Signaling Mechanisms

Advanced Science, EarlyView.
This study reveals that Schwann cell FDFT1‐mediated cholesterol synthesis is essential for peripheral nerve regeneration via dual roles: as a structural component for myelin and as a metabolic signal that upregulates IGF1. IGF1 promotes axonal growth through paracrine action and enhances Schwann cell differentiation/ myelination via an intrinsic IGF1R ...
Shuyi Xu, Ye He, Ying Zou, Mengyao Zhao, Jiaqi Zhang, Yizhou Xu, Jiale Cai, Xiongbo Luo, Xinrui Ma, Saini Wu, Yuling Huang, Xianghai Wang, Jiasong Guo   +12 more
wiley   +1 more source

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study. [PDF]

Nat Med
Lunke S, Downie L, Caruana J, Kugenthiran N, De Fazio P, Hollizeck S, Bouffler SE, Amor DJ, Archibald AD, Bombard Y, Christodoulou J, Clausen M, Fagan W, Gaff C, Greaves RF, Gyngell C, Kanga-Parabia A, Lang N, Lee C, Lynch F, Marty A, Marty M, McGregor C, Riseley J, Sadedin S, Scarff K, da Cunha Torres M, Tutty E, Vang C, Wall M, Wong EM, Yeung A, Goranitis I, Best S, Vears DF, Stark Z.   +35 more
europepmc   +1 more source

Feasibility of newborn screening for pyridoxine-dependent epilepsy [PDF]

Kristine Pauly, Michael Woontner, José E. Abdenur, Bimal P. Chaudhari, Rachel Gosselin, Kimberly A. Kripps, Janet A. Thomas, Michael F. Wempe, Sídney M. Gospe, Curtis R. Coughlin   +9 more
openalex   +1 more source

TRIM40 Drives Pathological Cardiac Hypertrophy and Heart Failure via Ubiquitination of PKN2

Advanced Science, EarlyView.
This study identifies the E3 ligase TRIM40 as a key driver of pathological cardiac hypertrophy. TRIM40 binds PKN2 via its B‐box domain and, through its C29‐dependent catalytic activity, mediates K63‐linked ubiquitination of PKN2. This modification enhances PKN2 phosphorylation at Ser815, thereby driving hypertrophy.
Risheng Zhao, Xiaoli Cui, Huizhu Du, Zhuoqun Wang, Chang Liu, Linxin Zhang, Jianing Qi, Di Yang, Hui Yu, Shuang Yan, Wei Liu, Haiming Sun, Mengyang Wang   +12 more
wiley   +1 more source

Three ethical approaches to expanding newborn screening through genomics: a critical comparative analysis. [PDF]

BMC Med Ethics
Watts G, Otlowski M, Banks R, Newson AJ.
europepmc   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Measuring MMP-7 levels in dried blood spots appears not feasible for newborn screening of biliary atresia. [PDF]

Hepatol Commun
Uecker M, Bulitta B, Janzen N, Petersen C, Kuebler JF, Klemann C, Madadi-Sanjani O.   +6 more
europepmc   +1 more source

Newborn hearing screening program in Ankara Polatlı State Hospital: six-year outcome

, 2012
Levent RENDA, Eşref ÖZER, Rahime RENDA
openalex   +1 more source