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research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

36 citations , March 2019 in “European Journal of Human Genetics”

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

January 2021 in “Research Square (Research Square)”

Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

November 2020

The study found genetic variations in sheep that affect traits like milk production, growth, and health.

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

November 2019

The study found genetic variations in sheep linked to traits like milk production, growth, and health.

A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

5 citations , May 2011 in “European Journal of Medical Genetics”

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study

13 citations , April 2009 in “PLOS ONE”

No clear link between androgen receptor variation and hair loss, but more research needed.

research Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks

9 citations , December 2022 in “Genes”

CNVs influence hair length in Tianzhu white yaks.

research Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

29 citations , June 2016 in “Experimental Dermatology”

MCHR2 gene duplications may be linked to alopecia areata.

Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

20 citations , June 2019 in “Experimental Dermatology”

The research suggests that autophagy-related genes might play a role in causing alopecia areata.

Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation

research Copy number variation regions in Nellore cattle: Evidences of environment adaptation

21 citations , November 2017 in “Livestock science”

Nellore cattle have genetic variations linked to their adaptation to tropical environments.

research Genome-Wide Association Studies of Hair Whorl in Pigs

September 2024 in “Genes”

Genes affect pig hair patterns, aiding better breeding.

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

60 citations , January 2021 in “BMC Genomics”

The study mapped genetic variations in sheep, linking them to traits like milk production and growth.

research Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana)

August 2021

Wild African goats have genetic adaptations for surviving harsh desert conditions.

research The role of AUTS2 in neurodevelopment and human evolution

118 citations , October 2013 in “Trends in Genetics”

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

research Genetics of Structural Hair Disorders

17 citations , November 2012 in “Journal of Investigative Dermatology”

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat

13 citations , August 2017 in “Scientific reports”

Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.

Abstracts From The 55th European Society Of Human Genetics Conference: Oral Presentations

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations

5 citations , May 2023 in “European Journal of Human Genetics”

NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.

research Inherited Disorders of the Hair

2 citations , January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

research Abstracts

1 citations , November 2016 in “Congenital Anomalies”

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.

research Genetic Defects of Female Sexual Differentiation

November 2016 in “Elsevier eBooks”

Genetic mutations can affect female sexual development, requiring personalized medical care.

research Recent advances in the genetics of alopecia areata

April 2023 in “Medizinische Genetik”

New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.

research Long‐term culture of skin biopsies: maintenance of fibroblast production and competency of reprogramming

December 2025 in “FEBS Open Bio”

Long-term skin biopsy cultures can produce many fibroblasts that remain functional and can be reprogrammed.

research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

5 citations , December 2014 in “Molecular cytogenetics”

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease

60 citations , September 2023 in “Science”

BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.

research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases

26 citations , May 2024 in “Molecular Neurodegeneration”

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation

3 citations , April 2023 in “Veterinary sciences”

Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.

research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs

November 2025 in “BMC Genomics”

Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.

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for
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Research

research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study

research Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks

research Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2

research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

research Copy number variation regions in Nellore cattle: Evidences of environment adaptation

research Genome-Wide Association Studies of Hair Whorl in Pigs

research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing

research Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana)

research The role of AUTS2 in neurodevelopment and human evolution

research Genetics of Structural Hair Disorders

research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations

research Inherited Disorders of the Hair

research Abstracts

research Genetic Defects of Female Sexual Differentiation

research Recent advances in the genetics of alopecia areata

research Long‐term culture of skin biopsies: maintenance of fibroblast production and competency of reprogramming

research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease

research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases

research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation

research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs

research Male infertility and genitourinary birth defects: there is more than meets the eye

research Selection signatures for fiber production in commercial species: A review

research The idiosyncratic genome of Korean long-tailed chicken as a valuable genetic resource