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This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

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 suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.

This study found that gene-regulatory interactions among parental alleles contribute significantly to heterosis in early stages of maize development, with many differentially expressed genes showing non-additive expression in hybrids.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This study found no evidence that HDGF expression transforms melanocytes into tumors in a mouse model, although it may play a role in cell differentiation and tumor progression.

In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.

This study identified a set of tumour-suppressive microRNAs (miRNAs), termed 'normomiRs', that are highly expressed in normal tissues but low in tumors, with miR-206 and miR-381 showing significant in vitro cancer inhibition, highlighting their potential for miRNA-replacement therapies across multiple cancer types.

In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.

This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.

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

This study found that gamma-ray exposure on the day of fertilization or the day after increased genome editing efficiency in pregnant mice using the i-GONAD method, potentially aiding in the creation of diverse experimental animal models.

This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.

This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This chapter reviews Hutchinson–Gilford progeria syndrome as a model for studying aging but presents no new findings, covering its genetic basis, clinical features, and existing treatments.

This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

This study identified three hub genes—BMP4, POSTN, and WNT5A—that are closely associated with keloid fibroblast hyperplasia, suggesting they may serve as potential biomarkers for inhibiting this condition. Further research is necessary to fully understand their roles in keloid development.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.

In this study, the deletion of Smad4 and PTEN genes in mice was associated with rapid and invasive squamous cell carcinoma formation in the forestomach, modeling human esophageal cancer progression.

This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.