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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 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 mapped genome-wide copy number variations in Chinese indigenous fine-wool sheep, providing a valuable genetic resource for researching complex traits and genetic diversity in this species.

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 case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

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 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 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 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.

In this study, treatment with cell-derived nanovesicles from hair follicle mesenchymal stem cells improved photoaging signs in UVB-exposed mice and human dermal fibroblasts by reducing oxidative stress, enhancing cell proliferation, and promoting extracellular matrix production.

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

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

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.

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 the objectives and design of the Rotterdam Study and summarizes key findings across its focus on various diseases, without reporting new experimental results.

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

This article outlines the rationale and design of the Rotterdam Study, summarizes its major findings, and updates its objectives and methods; it reports no new research results.

This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.

This article discusses the rationale, design, major findings, and updated objectives and methods of the ongoing Rotterdam Study on various diseases, without reporting new research results.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

This review noted that alopecia areata is an autoimmune disease impacting hair follicles and offered insights into its complex pathogenesis involving immune responses, while highlighting ongoing research into new treatments such as Janus kinase inhibitors and other immunomodulatory drugs.

This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.

This review discusses the role of complement activation in SLE and suggests that while monitoring C3 and C4 remains important, increased levels of cell-bound complement activation products may better indicate disease activity.

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.

This study found that ancient and modern Chinese goats share close genetic ties, originating from the Fertile Crescent, with genetic divergence influenced by China's climatic divisions.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.

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.