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In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

This study found that 4-(ethoxycarbophenyl) retinamide (RI) exhibited significantly lower acute, subacute, and chronic toxicity compared to other retinoids in mouse and rat models.

This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.

This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.

This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.

This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.

Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.

This case report describes the first known instance of alopecia associated with multicentric reticulohistiocytosis, evidenced by scalp biopsy findings of histiocyte infiltration in a 52-year-old woman.

This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.

LIPH mutations cause woolly hair in some Chinese people.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

This article presents a case of an 8-year-old boy with Recklinghausen's disease showing features such as café-au-lait spots, alopecia, and developmental anomalies, but reports no new findings beyond observation.

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.