4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
2 citations
,
November 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report observed that oral tofacitinib treatment resolved both alopecia universalis and plaque psoriasis in a patient, possibly by targeting shared inflammatory pathways.
31 citations
,
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.
134 citations
,
February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
89 citations
,
August 2008 in “Human genetics” This study found that the EDAR 1540T/C genetic variant is significantly associated with hair thickness variation in Japanese populations, enhancing previously observed associations in Southeast Asian groups.
36 citations
,
January 2017 in “Journal of Obstetrics and Gynaecology Research” This review discusses the association between vitamin D receptor polymorphisms and polycystic ovary syndrome, noting the need for further research on their impact on the disorder's manifestations.
27 citations
,
April 2018 in “Scientific Reports” This study found that in psoriasis patients, the K17 protein probably functions as an autoantigen, with the HLA-Cw*06:02 risk genotype strongly linked to the T cell response size.
26 citations
,
September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
26 citations
,
November 2009 in “Journal of Endocrinological Investigation” This study found no significant difference in the CAG and GGN repeat lengths between infertile and fertile men in Nigeria, but identified a unique GGN allele distribution in the Nigerian population compared to Caucasians.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
January 2023 in “Annals of Dermatology” This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case report, a patient with early inflammatory linear morphea showed remarkable hair regrowth after treatment with topical creams, highlighting dermoscopy's value in diagnosis and monitoring disease progression.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
20 citations
,
September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
37 citations
,
October 2015 in “European Journal of Human Genetics” This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
25 citations
,
July 2013 in “Journal of Dermatological Science” This study suggests that the androgen receptor locus on the X chromosome may play a role in the pathogenesis of early-onset female pattern hair loss.
1 citations
,
September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
February 2019 in “Institutional Repositories DataBase (IRDB)”
May 2018 in “White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)” In this study, researchers found that alopecia areata patients show a significant reduction in suppressive regulatory T-cells and an increase in inflammatory T-cell populations, suggesting an immunological imbalance contributing to the disease.
June 2008 in “CRC Press eBooks” PCOS may have evolved as an advantage in past environments with food scarcity.
86 citations
,
October 2017 in “Translational pediatrics” This review discusses how ophthalmic findings can reveal key endocrine disorders and reports no new clinical results, emphasizing the eye's role in diagnosing and managing systemic diseases like diabetes and Graves' ophthalmopathy.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
March 2016 in “West Indian medical journal” This study found no statistically significant relationship between androgenic alopecia and the PON1 ML55 and QR192 genetic polymorphisms, despite a higher frequency of the PON 55 L allele in patients.