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This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This review discusses recent genetic approaches to understanding tissue regeneration mechanisms in vertebrates and reports no new results; it highlights objectives in identifying cellular and molecular factors involved.

This study found a direct correlation between the testicular feminization gene and decreased androgen receptor activity, potentially explaining the androgen insensitivity in affected individuals.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

In this study, the authors identified a role for hair follicles in regulating the formation and sympathetic innervation of arrector pili muscles, influencing hair follicle stem cell activity and potentially explaining hair loss associated with beta-blockers and androgenic alopecia.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This hypothesis paper proposes that men with X-linked recessive ichthyosis may exhibit no androgenetic alopecia or only mild forms, and suggests clinical studies to evaluate this hypothesis.

This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.

In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.

In this study, researchers investigating the Drosophila testis niche system reported that Notch signaling is crucial for niche cell specification, with early gonadogenesis showing signals coming from outside the gonad to direct cell fate.

This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.

This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.

This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.

This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.

This study observed that male-to-female skin grafts were consistently rejected in mice due to sex-linked histocompatibility antigens, suggesting potential applications for distinguishing between X- and Y-chromosome-carrying sperm.

In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.

This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.