May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents a hypothesis that the EDAR V370A allele was positively selected in East Asian populations due to the stable aquatic resources in Late Pleistocene northern China, which may have offset the allele's metabolic costs and provided a selective advantage.
27 citations
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June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
November 2024 in “Journal of Functional Foods” In this study, APC collagen peptides were observed to enhance hair elasticity and gloss in human hair follicles by increasing amino acid and lipid component levels, suggesting their potential benefits for improving hair qualities.
2 citations
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March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
In this study, researchers identified three novel genetic loci associated with androgenetic alopecia, including one with significant association in females only, which may indicate a role for sex-specific genetic factors in patterned hair loss.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
36 citations
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November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
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.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
40 citations
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December 2010 in “Human Genetics”
April 2012 in “Encyclopedia of Life Sciences” This review discusses recent genome-wide association studies identifying novel candidate genes for various forms of alopecia, providing insights into their pathogenesis and molecular mechanisms, but reports no new clinical results.
14 citations
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January 1977 in “PubMed” This study found that a specific variant in hair keratin was present mainly in Caucasian samples, with few exceptions showing likely Caucasian admixture.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
October 2022 in “BMC genomics” This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.
July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
3 citations
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June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
9 citations
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January 2007 in “Gynecological Endocrinology” This case report presents the first known instance of combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2 in a patient, exploring potential mechanisms for their interrelation.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
November 2023 in “Journal of Investigative Dermatology” This study used advanced single-cell RNA and chromatin sequencing to investigate differences in peripheral blood cells between mild and severe alopecia areata patients, uncovering shared transcription factor motifs that may explain disease severity and open avenues for future research on therapeutic targets.
2 citations
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September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
January 2024 in “Archives of Biological Sciences (Beograd)” This study found that AP collagen peptides can promote hair growth by supporting the health of hair follicle cells, as they stimulate cell proliferation, counteract apoptosis, and enhance antioxidant enzyme expression, suggesting potential as a treatment for hair loss.
September 2023 in “Medicina-lithuania” In this study, DNA analysis of patients with androgenetic alopecia and alopecia areata indicated potential differences in treatment response based on genetic makeup across Romanian and Brazilian populations, notably involving genes like GR-alpha and SULT1A1, which may guide personalized treatment strategies.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.