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This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.

This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.

This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.

This report describes a 1949 case of a young girl with a rare congenital ectodermal defect causing unique hair fragility, which had not been previously documented in the literature.

This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.

This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.

In this study, ectoderm-targeted transgenic mice with glucocorticoid receptor overexpression exhibited multiple epithelial defects, suggesting the role of NF-kappaB and p63 dysfunction in ectodermal dysplasia syndromes.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.

This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.

This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.

This study found that ectodermal precursor cells derived from human induced pluripotent stem cells may enhance hair follicle morphogenesis through improved epithelial-mesenchymal interactions when cocultured with dermal cells.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study highlights the role of Orai1 in ameloblast differentiation and maturation, showing that its down-regulation affects cell proliferation and enamel formation during tooth development.

This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

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

This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.

This study reports that Wise is expressed in specific patterns during the morphogenesis of chick embryos, particularly in regions associated with known signaling molecules like Wnt, Bmp, and Shh.

This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.

This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.

This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.

This study found that Hex gene expression patterns in chick embryo dorsal skin during feather bud development suggest a significant role in initiating feather morphogenesis.