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This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.

This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.

A specific gene mutation causes sparse, brittle hair in a family.

In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.

This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.

This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.

In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.

This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.

LIPH mutations cause woolly hair in some Chinese people.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study found that deficiency in TLR3/TRIF signaling reduced inflammation and protected mice against postoperative ileus, suggesting potential for TLR3 antagonism as a preventive approach in humans.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.

This study found no significant association between the MDR1 C3435T polymorphism and methotrexate responsiveness in rheumatoid arthritis patients.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.

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

This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.

Among Merino × Southdown cross sheep, this study found that certain variants of the KRT81 gene were associated with differences in fleece weight, but not with staple length or fibre diameter traits.

This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

In this case report, significantly elevated testosterone levels were documented in a young female with Type A Insulin Resistance Syndrome, marking a clinical finding beyond what is typically associated with the disorder's known mutations.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.