Results 201 to 210 of about 214,452 (243)

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Prenatal ultrasound markers for predicting blood transfusion in placenta accreta spectrum. [PDF]

BMC Pregnancy Childbirth
Kından A, Ulusoy CO, Kurt A, Dereli ML, Sucu S, Yıldız AG, Yücel KY, Çelen Ş, Çağlar AT, Üstün YE.   +9 more
europepmc   +1 more source

Perspectives on Pertussis Prevention

Acta Paediatrica, EarlyView.
Ulrich Heininger
wiley   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

In utero exposure to anti-Caspr2 antibody disrupts parvalbumin interneuron function in the hippocampus. [PDF]

Brain Behav Immun
Bagnall-Moreau C, Strohl JJ, Spielman B, Cruz C, Huerta P, Brimberg L.   +5 more
europepmc   +1 more source

Fetal loss in women exposed to cigarette smoke in-utero. [PDF]

Prev Med Rep
Honorato-Rzeszewicz T, Hoek A, Haadsma ML, Groen H.   +3 more
europepmc   +1 more source

Mechanistic Insights Into Recurrent Implantation Failure: The Lactate–H3K18la–SLC7A11 Axis Explored via Endometrial Organoid and Blastoid–Endometrial Cell Implantation Models

Cell Proliferation, EarlyView.
Clinical samples first revealed impaired lactate synthesis in RIF patients. Subsequently, using endometrial organoids and a blastoid‐endometrial cell implantation model, we demonstrated that lactate enhances endometrial receptivity via H3K18la‐mediated SLC7A11 activation.
Lingling Dong, Xiaobin Sun, Shiyu An, Jinfeng Xiang, Lingmin Hu, Dan Yao, Jiaqian Chang, Ruizhe Jia, Yang Yang, Shuxian Wang   +9 more
wiley   +1 more source

Sugar rationing during the first 1000 days of life and lifelong risk of heart failure. [PDF]

Nat Commun
Tang H, Zhang X, Huang J, Chen X, Hong J, Lin H, Tian C, Nan L, Lin M, Yang Q, Wu S, Chen P, Wen J, Jiang L, Zhang Y, Wang Y, Tan X, Chen Y.   +17 more
europepmc   +1 more source

Born to run? Associations between gestational and early‐life exposures and later‐life performance outcomes in Thoroughbreds

Equine Veterinary Journal, EarlyView.
Abstract Background Gestational and early‐life exposures may modulate development during growth and influence future athletic performance. Objectives To investigate associations between gestational and early‐life exposures in Thoroughbreds and (i) likelihood of racing, (ii) total number of runs and (iii) total prizemoney by the end of the 3‐year‐old ...
Rebecca Mouncey, Amanda M. de Mestre, Juan Carlos Arango‐Sabogal, Kristien L. Verheyen   +3 more
wiley   +1 more source

Interactions between small leucine‐rich proteoglycans and proteases: implications for tissue homeostasis and pathology

The FEBS Journal, EarlyView.
Small leucine‐rich proteoglycans (SLRPs) are key modulators of extracellular matrix structure and signaling. Their proteolytic processing by MMPs (Matrix Metalloproteinases), ADAMTS (disintegrin and metalloprotease with thrombospondin motifs), and serine proteases generates bioactive fragments that regulate collagen remodeling, inflammation, and ...
Maria Konstantaraki, Lydia‐Nefeli Thrapsanioti, Aikaterini Berdiaki, Ioanna Spyridaki, Dragana Nikitovic   +4 more
wiley   +1 more source