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This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.

This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.

This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.

This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.

This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.

An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.

TNF-a may not be as involved in certain types of hair loss as previously thought.

This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.

This research found that the transfer reaction catalyzed by human plasma and guinea pig hair follicle transglutaminases aligns with a ping-pong mechanism involving peptide-bound glutamine.

The document concludes that human astrocytes aid stroke recovery, research confidence affects student career aspirations, collagen affects cancer spread, a microRNA suppresses brain cancer growth, calmodulin regulates water channels, and small magnesium pieces deform differently.

This study found that Forsythiaside A may protect against sepsis-induced acute kidney injury in mice by reducing inflammation and apoptosis through modulation of ER stress responses.

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.

This study found that deleting Snai2 and Snai3 genes in mice disrupts immune cell development, resulting in severe autoimmunity and early death due to the loss of immune tolerance.

This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.

In this study, researchers found that the naked (N) gene in mice indirectly affects the synthesis of structural proteins in mouse hair, resulting in reduced high tyrosine protein content and unusual amino acid compositions.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.

This study on Alzheimer's patients found that chronic sodium selenate treatment (up to 23 months) was safe and well-tolerated, with most adverse events being mild, and suggested potential slowing of cognitive decline, though confirmation requires further controlled studies.

This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.