Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

A new mouse mutation causes skin and hair issues, influenced by another gene.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.

This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.

This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.

This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.

This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.

This study found significant gene expression abnormalities in hair follicles affected by alopecia areata, suggesting persistent changes that may predispose to future relapses even after hair regrowth.

This review classifies mutant mice with hair abnormalities into six categories, providing an annotated table that serves as a reference for understanding the molecular controls of hair growth.

This study found that supplementing pregnant and lactating mice with high dietary copper improved survival and physical traits in mice carrying the crinkled mutation, suggesting copper's role in modulating gene expression.

This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.

This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This source describes the development, structure, and types of skin appendage tumors, noting both benign and malignant forms, potential associations with syndromes, and categories based on follicular differentiation.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

In this animal study, researchers found that the simultaneous deletion of ERBB2 and ERBB3 in mice results in impaired skin differentiation, inflammation, and sebaceous gland alteration, leading to skin lesions, while highlighting potential side effects in cancer therapies targeting these receptors.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.

In this study, high doses of Lepidium sativum seeds extract were reported to cause toxicity and tissue damage in animals, suggesting the need for careful use under medical supervision.

This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.

In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.