Results 11 to 20 of about 211 (109)
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
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Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT This report highlights the value of multidisciplinary collaboration, personalized care, dynamic monitoring of seizure activity, and innovative skin management in a 2‐month‐old with Phakomatosis Pigmentovascularis. In parallel, the nursing team implemented a multidimensional “medical–social–psychological” support model, providing psychological ...
Kaimin Chen +6 more
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Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
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Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome
Neurogastroenterology &Motility, Volume 37, Issue 12, December 2025.Ganglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Björn Ersson +3 more
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The Diverse Genetic Landscape of Hearing Impairment in South African Families
Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj +10 more
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Revista de Ciencias Médicas de Pinar del Río, 2012 Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia ...
Fidel Castro Pérez +4 more
doaj
Animal Models and Experimental Medicine, Volume 8, Issue 10, Page 1866-1875, October 2025.This study optimized the breeding strategy for Sox10Dom/+ mice, enhancing research efficiency. By self‐breeding the progeny B6C3Fe‐g, resulting from the cross of B6C3Fe Sox10Dom/+ males with C57BL/6J females, it was found to have a higher number of offspring and greater survival rates compared to the B6C3Fe strain, while maintaining genetic and ...
Chaoting Lan +15 more
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Kerala Journal of Ophthalmology, 2018 Waardenburg syndrome is a rare genetic disorder with at least 1,400 cases has been reported in medical lecture.In waardenburg syndrome a patient presents with hypopigmented areas of skin,white forelock of hairs,difference in the colour of both iris and some associated conditions like hirschsprung disease,malformation of upper limbs as well as certain ...
Anubhav Chauhan, Shveta Chauhan
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A case of Waardenburg syndrome and aganglionosis
The Turkish Journal of Pediatrics, 1992 Waardenburg's syndrome is characterized by a broad nasal root, pigmentation disturbance and congenital deafness while aganglionosis is described as the partial or complete lack of ganglion cells in the alimentary tract.
E Aritürk, N Tosyali, N Aritürk
doaj
Glia, Volume 73, Issue 10, Page 2077-2097, October 2025.Main Points OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the ...
Ed Zandro M. Taroc +7 more
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