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research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis

May 2023 in “Pharmaceuticals”

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

98 citations , June 2008 in “Human mutation”

A genetic change in the EDAR gene causes the unique hair traits found in East Asians.

research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation

54 citations , December 2011 in “American Journal Of Pathology”

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening

2 citations , May 2019 in “Small ruminant research”

Mutations in specific llama genes may affect fiber quality for textiles.

research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

234 citations , November 2009 in “American journal of human genetics”

Common variants in the Trichohyalin gene are linked to straight hair in Europeans.

research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep

2 citations , May 2023 in “Journal of Advanced Research”

Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.

research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis

3 citations , April 2012 in “Bioinformation”

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy

April 2026 in “Cureus”

A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.

research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss

19 citations , July 2020 in “EBioMedicine”

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits

1 citations , August 2024 in “Animals”

KRT85 gene variations can help improve wool traits in sheep through selective breeding.

research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population

2 citations , January 2019 in “Annals of Dermatology”

Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.

research Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice

11 citations , June 2012 in “Acta histochemica”

Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer

6 citations , February 2013 in “Medical Oncology”

Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.

Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population

research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population

January 2016

The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.

research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk

5 citations , January 2020 in “Bioscience Reports”

Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.

research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation

April 2016 in “Hormones”

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

2 citations , August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women

January 2022 in “Journal of Biomedical Research & Environmental Sciences”

Certain gene variations may increase the risk of PCOS in South Indian women.

research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms

21 citations , January 1995 in “Molecular Biology Reports”

Scientists discovered two versions of a new human hair keratin gene.

research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa

5 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A new therapy for a skin blistering condition has not been developed yet.

research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome

9 citations , September 2015 in “Reproductive Biomedicine Online”

Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.

research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism

3 citations , April 2020 in “American Journal of Case Reports”

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

15 citations , June 2012 in “British Journal of Dermatology”

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

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 Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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