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This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.

This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.

In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.

This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.

This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.

This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.

In this study, researchers found that deleting Med1, a key epigenetic regulator in dental epithelia, led to hair growth on mouse incisors by altering enhancer landscapes and causing a switch from dental to hair lineage transcription programs.

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.

This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.

In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.

This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.

This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.

This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.

This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

This study presents evidence that hair matrix progenitors and the enzyme Stearoyl CoA Desaturase 1 may play a role in maintaining the dermal papilla niche via autocrine Wnt and paracrine Hedgehog signaling in mice.