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In this case-control study, the researchers found no significant association between IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms and alopecia areata susceptibility among the Egyptian population.

This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.

This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.

This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.

Deleting Crif1 in mouse skin disrupts skin balance and hair growth.

This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.

In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.

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

This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.

This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.

This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.

This study found that specific genetic markers near the androgen receptor gene are significantly more common in men with male pattern baldness, suggesting a genetic component in its development.

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 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 monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.

This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.

This study found that patients with alopecia areata exhibited increased CRHR1 expression on circulating monocytes compared to controls, suggesting that stress-related factors like CRH and CRHR1 may contribute to the development and progression of the condition, particularly in chronic cases and those with larger lesions.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

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.

In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.

This study found that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms do not have a significant association with alopecia areata susceptibility in the Egyptian population.

This study found that shorter GGN repeat lengths (≤23) in the androgen receptor gene are associated with androgenetic alopecia among Chinese males, whereas two specific SNPs studied were not present in this population.

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 demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.

In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.