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This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.

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 reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.

This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.

This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.

In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.

In this study, researchers observed that melatonin-mediated LncRNA MTC in Liaoning cashmere goat skin fibroblasts enhances cell proliferation by interacting with the GSTM1 protein, affecting its complex formation with ASK1 and thereby inhibiting apoptosis, which may be relevant for improving cashmere growth.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This study suggests that PLA2R1 overexpression in PMN affects the podocyte cycle and may involve an additional immune response, which could provide new directions for PMN treatment development.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

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.

This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study found that MRP3 is induced in wound edge keratinocytes during wound healing and may play a role as a growth or angiogenesis factor in this process and the hair follicle cycle.

This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.