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This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.

This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.

This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.

In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.

This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.

This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.

This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.

This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.

This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.

This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.

In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.

In this study, Egyptian nodulocystic acne patients had significantly fewer CAG repeats in their androgen receptor gene compared to controls, which may influence acne development and suggest a role for antiandrogen therapy in treatment strategies.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.

This study found that Atlantic croaker nuclear androgen receptors AR1 and AR2 have different binding affinities for androgens, suggesting that they may mediate distinct physiological actions in teleosts.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This study reported that CCT oligodeoxynucleotide induced patchy hair loss in male mice with specific genetic traits, suggesting gender and genetic preferences in immune response.

This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.

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

This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.

This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.

This study suggests that androgen receptor gene CAG repeat length may influence serum free testosterone levels in some PCOS patients, with longer repeats associated with higher testosterone concentrations.

In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

This study investigated the TG5 gene polymorphism in Lithuanian beef cattle, finding that the CC genotype is associated with higher productivity traits, such as live weight and carcass weight, compared to other genotypes, and noted a statistically significant impact on these traits.

This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.