4 citations
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August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
2 citations
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August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
November 2025 in “BMC Genomics” 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.
October 2024 in “Cosmetics” This review highlights the lack of research on Afro-textured hair, emphasizing the need for better understanding of its genetic traits and molecular structure to develop more effective hair care solutions.
September 2023 in “Nature Communications” In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.
January 2018 in “Murdoch Research Repository (Murdoch University)” This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study identified three new genetic loci associated with PCOS and found a similar genetic structure across different diagnostic criteria, suggesting a genetic basis for shared metabolic traits and potential causal links to other conditions.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
31 citations
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January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
7 citations
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July 2019 in “Animals” This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
4 citations
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June 2015 in “Journal of Genetics/Journal of genetics” This abstract reports funding sources for ongoing research and does not present any study results.
3 citations
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December 2018 in “Meta Gene” This study applied a prediction model based on five SNPs to Russian males with male pattern hair loss, finding a significant association between the AR genomic region and high dihydrotestosterone levels in these patients.
May 2008 in “Hair transplant forum international” This abstract provides no results, as it only notes Sharon Keene's professional role and describes a non-blood test for AGA genetics.
23 citations
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October 1996 in “Dermatologic clinics” This review discusses genomic and postgenomic alterations in chronic degenerative diseases and potential modulation by dietary and pharmacological agents, reporting no new clinical results.
1 citations
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May 2025 in “Animal Bioscience” This study explored the spatial variation of THFD in cashmere goats and identified four genes associated with it, offering insights that could aid in the development of THFD genes for these animals.
November 2025 in “Skin Health and Disease” This review identifies 33 genetic syndromes associated with alopecia areata in children, with 67% fully genetically elucidated, and highlights their clinical features, providing insights that may aid in early prediction, diagnosis, and personalized treatments.
36 citations
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March 2019 in “European Journal of Human Genetics” 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.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
5 citations
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June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
4 citations
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July 2022 in “Scientific reports” This study observed significant differences in hair and cashmere properties among three goat breeds in Southwest China, noting better quality cashmere in Inner Mongolia cashmere goats and their crossbreed compared to Dazu black goats.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
May 2024 in “Frontiers in medicine” In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
In this review, the authors highlight a lack of understanding regarding the unique properties of Afro-textured hair, emphasizing the need for scientific collaboration to improve hair care practices and mitigate scalp issues.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
48 citations
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May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.