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This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.

This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

In this case-control study, researchers did not find genome-wide significant genetic variants for trichotillomania, but cases had higher polygenic risk for psychiatric disorders and certain neuropsychiatric-associated copy number variants.

This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.

Male infertility and genitourinary birth defects are often linked to genetic issues.

This abstract describes a program with various presentations and events focused on Canadian excellence in rheumatology but reports no new research findings.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.

This study found no evidence that androgen receptor copy number variation is associated with androgenetic alopecia, suggesting it is unlikely to be a contributing factor.

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.

This study conducted a genome-wide analysis in Tianzhu white yaks, identifying differential genes associated with hair growth between long-haired and normal-haired individuals.

This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.

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.

This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

This study mapped copy number variations in Chinese fine-wool sheep, identifying regions linked to important traits like milk production and growth, and highlighting a strong selection signal at the RXFP2 gene.

This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.

This study constructed a genomic map of copy number variations in fine-wool sheep, revealing their potential impact on traits like growth, nutrient metabolism, and susceptibility to selection pressures.

This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.

This study mapped genomic copy number variation in Chinese fine-wool sheep, identifying genes involved in sensory perception, nutrient metabolism, growth, and development, and highlighting significant selection on the RXFP2 gene.

This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.

This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.

The document summarized various dermatology studies and case reports.

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 article reviews various types of scarring alopecia, detailing their inflammatory characteristics, but presents no new clinical findings.

Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.

This study found significant genetic differences between pigs with and without hair whorls, suggesting potential implications for pig breeding strategies in China.

This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.