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This study reported no Cx30 expression in normal interfollicular human epidermis and minimal expression in some skin structures, with faint detection in porokeratosis of Mibelli patient skin.

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.

This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.

This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.

This study found that the retromer protein AtVPS29 in Arabidopsis plants modulates gibberellin signaling by upregulating the SLY1 protein and downregulating the RGA protein, ultimately enhancing the development of the root meristematic zone.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study identified several genes regulated by dihydrotestosterone in an SV40T-transformed human dermal papilla cell line, which may play a role in androgen-mediated hair growth regulation.

This study observed that lectin-binding patterns in skin appendage tumors reveal differences in sweat gland tumors compared to normal tissues, but pilosebaceous tumors maintained a similar lectin-binding pattern to their corresponding normal structures.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study found that the topically applied non-steroidal antiandrogen RU 58841 may reduce androgen-dependent skin conditions in a hamster model with minimal systemic effects.

GNPTAB gene is crucial for normal hair color in humans and mice.

This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.

This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This study found that inhibiting C/EBP transcription factors in mouse skin reduced papilloma formation and caused systemic hair loss, suggesting C/EBP may be a potential therapeutic target.

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.