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This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.

This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.

This study reported no significant association between vaspin and visfatin -4689G/T gene polymorphisms and alopecia areata in the Turkish population, although the visfatin GT genotype may pose a risk factor for the condition.

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.

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.

In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.

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

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

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 identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.

This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.

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 variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.

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

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This review discusses the potential role of androgen receptor CAG repeat polymorphism testing in hypogonadism management for both sexes, but its clinical utility remains unclear and requires further investigation.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.

LIPH mutations cause woolly hair in some Chinese people.

This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.

This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.

Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.

This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This study found that among Large White × Min pigs, 15 significant copy number variation regions were associated with villi hair traits, and identified candidate genes potentially linked to cold resistance, suggesting implications for breeding cold-resistant pigs.