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This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This study found that the ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia specifically in young Mexican males.

This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.

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.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

This study determined that previous reports mistakenly identified different polymorphs of furosemide and finasteride, which are actually identical, due to incomplete data collection in single-crystal X-ray diffraction analysis.

This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.

This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.

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 identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.

This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.

This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.

Defective protein folding due to a mutation is key in ANE syndrome.

This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

This study highlighted that advancements in genome-wide association studies have identified numerous DNA variants linked to human appearance traits, significantly enhancing our understanding of the genetic and epigenetic factors influencing human phenotypes and contributing to genomic tools for anthropology and forensics.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.

This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.

This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.

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 a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

In this study, overexpression of YAP1 was found to promote adipogenic differentiation of goat adipose-derived mesenchymal stem cells by up-regulating LATS2 expression and activating the Hippo pathway's negative feedback loop.

This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.

In this study, decreased expression of BMP2 and ephrin A3 and increased NT-4 gene expression were observed in dermal papilla cells from androgenic alopecia-affected skin, suggesting potential roles in hair growth regulation.

This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.