Results 41 to 50 of about 7,052 (205)

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Journal of Medical Case Reports, 2019
Background It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare ...
Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani   +4 more
doaj   +1 more source

A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene

Molecular Genetics & Genomic Medicine, 2020
Background Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell‐
Shuzhi Yang, Cuicui Wang, Chengyong Zhou, DongYang Kang, Xin Zhang, Huijun Yuan   +5 more
doaj   +1 more source

The “Domestication Syndrome” in Mammals: A Unified Explanation Based on Neural Crest Cell Behavior and Genetics [PDF]

, 2014
Charles Darwin, while trying to devise a general theory of heredity from the observations of animal and plant breeders, discovered that domesticated mammals possess a distinctive and unusual suite of heritable traits not seen in their wild progenitors ...
Fitch, W. Tecumseh, Wilkins, Adam S., Wrangham, Richard W.   +2 more
core   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

BMC Pediatrics, 2018
Background Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, Tatsuo Matsunaga   +6 more
doaj   +1 more source

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]

, 2008
We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu, Jong Hun Kim, Kyu-Won Kim, Kyung-Soo Oh, Pamela Song   +4 more
core   +1 more source

Making the invisible visible [PDF]

, 2016
In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from ...
Ando, Attié, Badolato, Barnett, Basmanav, Betz, Bin, Boissy, Bondurand, Bultema, Byers, Clark, Courcet, Cui, Cullinane, Cullinane, Dauphinee, Dell’Angelica, Di Pietro, Edery, Fischer, Gerondopoulos, Giebel, Giebel, Helip-Wooley, Hume, Hume, Iqbal, Ji, Kono, Kumano, Lee, Li, Lugassy, Lugassy, Luzio, Maurice A.M. van Steensel, McGlinchey, Miyamura, Murphy, Ménasché, Ménasché, Nagle, Newton, Olivares, Pastural, Pingault, Planko, Potterf, Puri, Qiu, Sato-Jin, Sckolnick, Sepulveda, Setty, Singh, Sitaram, Sánchez-Martín, Tassabehji, Tassabehji, Theos, Uttam, Vachtenheim, Van Raamsdonk, Van Steensel, Van Steensel, Weber, Wei, Wilson, Winder, Wu, Yamaguchi, Zazo Seco, Zhang, Zucca   +74 more
core   +2 more sources

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4

Disease Models & Mechanisms, 2016
Waardenburg syndrome is a neurocristopathy characterized by a combination of skin and hair depigmentation, and inner ear defects. In the type 4 form, these defects show comorbidity with Hirschsprung disease, a disorder marked by an absence of neural ...
Karl-F. Bergeron, Chloé M. A. Nguyen, Tatiana Cardinal, Baptiste Charrier, David W. Silversides, Nicolas Pilon   +5 more
doaj   +1 more source