Results 41 to 50 of about 433 (176)

Refining the Sox10Dom/+ mouse model: A new breeding strategy with relevance to Hirschsprung disease genetics

open access: yesAnimal 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
wiley   +1 more source

Color del iris e hipoacusia en el Síndrome de Waardenburg. Pinar del Río, Cuba Color of the iris and hypoacusis in Waardenburg Syndrome. Pinar del Rio, Cuba

open access: yesRevista de Ciencias Médicas de Pinar del Río, 2012
Introducción: Aunque se han descrito hipoacusia neurosensorial y cambios de color en el iris, la relación entre estos no ha sido estudiada previamente.
Fidel Castro Pérez   +4 more
doaj  

A molecular genetic investigation of rhabdomyosarcoma [PDF]

open access: yes, 1997
Alveolar Rhabdomyosarcoma IS characterised by a t(2;13)(q35;qI4) chromosome trartslocation, which leads to the fusion of the P AX3 artd the FKHR genes. The resulting fusion gene encodes a chimeric protein which has aberrant transcriptional activity.
Chalk, Jeremy
core   +1 more source

Shared Lineage, Distinct Outcomes: Yap and Taz Loss Differentially Impact Schwann and Olfactory Ensheathing Cell Development Without Disrupting GnRH‐1 Migration

open access: yesGlia, 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
wiley   +1 more source

Trastornos oculares y otras enfermedades en casos con síndrome de Waardenburg Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome

open access: yesRevista de Ciencias Médicas de Pinar del Río, 2012
Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones ...
Fidel Castro Pérez   +4 more
doaj  

Epidemiology and Surgical Management of Hirschsprung's Disease in France: A 12‐Year Retrospective Analysis (2012–2023)

open access: yesActa Paediatrica, Volume 114, Issue 10, Page 2526-2534, October 2025.
ABSTRACT Aim Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system, leading to functional intestinal obstruction in neonates and young children. This study aimed to assess the epidemiology and surgical management of HSCR in France over a 12‐year period using nationwide data.
Xavier Xu Wang   +6 more
wiley   +1 more source

Positive selection of hearing loss candidate genes,based on multiple microarray platforms experiments and data mining [PDF]

open access: yes, 2008
2006/2007Secondo le stime del World Health Organization, le perdite uditive colpiscono circa 278 milioni di persone in tutto il mondo. Approssimativamente 1 bambino ogni 100, nasce con problemi d’udito. Nonostante l’identificazione negli ultimi 10 anni
Licastro, Danilo
core   +1 more source

Colour Confusion: Reviewing Ambiguities in the Identification and Classification of Chromatophore Deficiencies Among Amphibians

open access: yesEcology and Evolution, Volume 15, Issue 9, September 2025.
The colour of amphibian skin and eyes is the result of light interacting with multiple chromatophores (xanthophores, iridophores and melanophores), leading to challenges when trying to identify which of these cells are involved in colour abnormalities.
John Gould
wiley   +1 more source

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
We reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Fei Hou   +5 more
wiley   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

open access: yesAdvanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng   +11 more
wiley   +1 more source

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