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research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women

11 citations , April 2019 in “Bioscience Reports”

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

research Mendelian randomization study highlights hypothyroidism as a causal determinant of alopecia areata

January 2024 in “Frontiers in endocrinology”

The study suggests that hypothyroidism may cause alopecia areata.

research A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

196 citations , March 2016 in “Nature Communications”

Genetic factors influence hair traits like shape, color, and greying in Latin Americans.

research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne

September 2021 in “International Journal of Biomedicine”

Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.

Androgen Receptor Gene Polymorphism (SNP RS6152) – Its Relationship to Androgen-Sensitive Genes Expression in Benign Prostatic Hyperplasia, Carcinoma of the Prostate, and Androgenetic Alopecia

research 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA

March 2011 in “European Urology Supplements”

Gene variation affects prostate issues and hair loss.

research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population

9 citations , August 2013 in “PLOS ONE”

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch

April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

HSD11b1 affects skin nerves and increases non-histaminergic itch.

research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother

January 2026 in “American Journal of Medical Genetics Part A”

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population

7 citations , January 2015 in “Dermatology”

Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.

research Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population

3 citations , January 2018 in “Postępy Dermatologii i Alergologii”

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.

research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11

76 citations , January 1998 in “Mammalian Genome”

research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population

September 2024 in “Frontiers in Genetics”

A specific genetic marker is linked to male pattern baldness in Han Chinese men.

Genotypes of Single-Nucleotide Polymorphisms on DENND1A in Association with Polycystic Ovary Syndrome Among Saudi Arabian Females

research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females

July 2025

SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.

research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

5 citations , June 2008 in “British Journal of Dermatology”

research LncRNA RP11-818O24.3 promotes hair-follicle recovery via FGF2-PI3K/Akt signal pathway

4 citations , May 2024 in “Cytotechnology”

research Integrated Safety Analysis of Ritlecitinib in Adolescent Patients with Alopecia Areata from the Randomized, Placebo-Controlled ALLEGRO Phase 2b/3 and Ongoing Open-Label Phase 3 ALLEGRO-LT Studies

1 citations , November 2023 in “SKIN The Journal of Cutaneous Medicine”

research Detection of NUDT15 R139C variants and azathioprine utilization in patients with dermatologic conditions

December 2023 in “International Journal of Dermatology”

research Genetic analysis of interleukin 18 gene polymorphisms in alopecia areata

12 citations , January 2018 in “Journal of Clinical Laboratory Analysis”

Certain IL-18 gene variations may increase the risk of alopecia areata.

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

51 citations , December 2006 in “Mammalian Genome”

research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata

9 citations , May 2019 in “Medicine”

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient

January 2022 in “International journal of dermatology and venereology”

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

research The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

76 citations , April 2005 in “Cancer Epidemiology, Biomarkers & Prevention”

E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.

First Case of V281+I172N/V281L CYP21A2 Genotype Associated with Congenital Adrenal Hyperplasia: A Case Report from Southern Italy

research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

October 2007 in “Clinical Biochemistry”

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study

research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study

7 citations , July 2020 in “Immunological Investigations”

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research ISIDLB1777 - A novel ex vivo model of human hair follicle immune privilege collapse reveals the potential of farudodstat, a DHODH inhibitor, as a therapeutic for alopecia areata treatment

May 2023

Farudodstat may effectively treat alopecia areata by protecting hair follicles without harmful effects.

research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

2 citations , September 2022

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

research 5 alpha-reductase-2 gene mutations in the Dominican Republic.

53 citations , May 1996 in “The Journal of Clinical Endocrinology & Metabolism”

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

3 citations , January 2008 in “Endocrine journal”

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

research KRT16 wt Allele

February 2020 in “Definitions”

Mutations in the KRT16 gene can cause skin and nail disorders.