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This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.

This case study suggests that treatment with Pil-Food, intended for hair loss prevention, may have triggered postinfantile giant cell hepatitis with autoimmune characteristics, which showed a rapid and effective response to corticosteroid therapy.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.

This study found that chronic stress may inhibit hair follicle growth and melanogenesis in mice through modulation of the central HPA axis, with C57BL/6 mice appearing most sensitive to these effects.

This study found that in sheep, the microRNA oar-miR-377 regulates hair follicle development by targeting the SLC24A2 gene, and identified a genetic variation associated with wool quality, suggesting potential markers for breeding.

This study suggests that the gene rs27647 polymorphism may play a role in the pathogenesis of severe acne vulgaris in post-adolescent male patients.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

This review discusses the various evidence-based and potential applications of metformin in treating and preventing symptoms and complications associated with polycystic ovary syndrome but reports no new clinical results.

This study found that overexpression of miR-214 in keratinocytes inhibits hair follicle development and cycling by targeting β-catenin in the Wnt signaling pathway.

This study found that PGD2 inhibits hair follicle regeneration in mice through the Gpr44 receptor, suggesting that blocking PGD2 or Gpr44 may enhance skin regeneration after wounds.

In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.

This study found that Runx1 in hair follicle stem cells modulates lipid metabolism, impacting membrane organization and enhancing signal transduction for cell proliferation in both normal and cancer epithelial cells.

In this study, high levels of the protein Flii in mice were associated with worsened symptoms and inflammation in ulcerative colitis, suggesting Flii may inhibit mucosal healing.

This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This study found that a high percentage of pediatric sickle cell disease patients have parents from medium-high socioeconomic status, indicating that the educational background of parents did not influence the disease's prevalence.

In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This study demonstrates that YAP and TAZ are essential for initiating basal and squamous cell carcinomas in mice, and suggests targeting these pathways could be beneficial for treating skin cancers.

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This review discusses the role of HPV vaccination and early screening in reducing cervical cancer incidence but reports no new clinical results.

This study found no significant association between the IL-15 genetic polymorphism (rs17015014) and the risk or severity of Alopecia Areata in the examined population.

In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.

This study found that certain genetic variations in the OPN gene may be linked to atopic dermatitis and a higher prevalence of asthma in Caucasians.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.

This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.