Results 221 to 230 of about 2,117,343 (256)

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

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Scaffold‐Free Living Cellular Structure With Omnidirectional Architectures

Advanced NanoBiomed Research, EarlyView.
Hydrogel lumen confinement enables the direct formation of mechanically stable, scaffold‐free cellular filaments under entirely aqueous, phototoxicity‐free conditions. These processable living building blocks support omnidirectional assembly into complex three‐dimensional architectures, providing a simple and versatile platform for scaffold‐free ...
Jing Ma, Shanshan Zhang, Xiaokang Deng, Cheng Qi, Haifeng Dong, Zhou Liu, Si Meng, Tiantian Kong   +7 more
wiley   +1 more source

Are there morpho‐acoustic patterns of adaptation in nonhuman primate ears? Testing the role of ecology and habitat in shaping ear morphology and function

The Anatomical Record, EarlyView.
Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot, Rémi Laffont, Émilie Steimetz, Patricia Balaresque, Sébastien Couette   +4 more
wiley   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source

Exceptional preservation informs the paleobiology of tapinocephalid dinocephalians

The Anatomical Record, EarlyView.
Abstract The tapinocephalid dinocephalian Moschops is one of the most iconic taxa of the middle Permian, yet its paleobiology remains one of the least well‐known. Here, we address some aspects of paleoneurology and paleobiology of Moschops using CT scanning of four well preserved skulls from the upper Abrahamskraal Formation of South Africa. Two of the
Julien Benoit, Lars Schmitz, Kenneth D. Angielczyk, Luke A. Norton, Andrew D. Bolton, Adam Midzuk, Roger M. H. Smith   +6 more
wiley   +1 more source