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This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.

This study reports that the differential expression patterns of three retinaldehyde dehydrogenases suggest a regulated need for retinoic acid synthesis in various organs during late mouse organogenesis.

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.

This case report describes a 30-year-old woman diagnosed with both Rhupus and Rowell syndromes, and details her presentation and treatment plan, without reporting specific treatment outcomes.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

Mutations in the DSG4 gene cause specific hair and scalp issues.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.

The researchers reported that disrupting ATRA signaling by deleting RDHE genes in the hair follicle led to altered hair follicle cycles, composition, and gene expression, indicating RDHEs' role in hair follicle signaling coordination.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.