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A Variant of the Glucocorticoid Receptor Gene Is Not Associated with Adrenal Androgen Excess in Women with Polycystic Ovary Syndrome

research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome

20 citations , December 2000 in “Fertility and Sterility”

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants

May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)”

Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.

research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

February 2026 in “Pediatric Dermatology”

research Vitamin D receptor gene polymorphisms are not associated with alopecia areata

13 citations , September 2007 in “International Journal of Dermatology”

Vitamin D receptor gene variations are not linked to alopecia areata.

research HDL as Therapeutic Tools

January 2019 in “Springer eBooks”

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

Role of Polymorphism of the Androgen Receptor Gene and Non-Random X Chromosome Inactivation in the Genesis of Androgenic Alopecia in Women of Childbearing Potential

research Role of polymorphism of the androgen receptor gene and non-random X chromosome inactivation in the genesis of androgenic alopecia in women of childbearing potential

April 2011 in “Vestnik dermatologii i venerologii”

Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.

research Hairless: A nuclear receptor corepressor essential for skin function

January 2006 in “Advances in developmental biology”

The Hairless gene is crucial for healthy skin and hair growth.

research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss

May 2025 in “Egyptian Journal of Dermatology and Venerology”

Certain gene changes and hormone levels are linked to female hair loss.

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment, and Adjunctive Cinacalcet Therapy

research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy

1 citations , January 2024 in “Pediatric Endocrinology Diabetes and Metabolism”

Cinacalcet may help treat hereditary vitamin D resistant rickets safely.

research Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients

1 citations , October 2024 in “Medicina”

CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.

research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.

April 2019 in “Journal of the Endocrine Society”

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier

2 citations , April 2013 in “Expert Review of Endocrinology & Metabolism”

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

1 citations , December 2015 in “Balkan Journal of Medical Genetics”

Genetic screening can help diagnose and manage infertility in Slovenian couples.

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

January 2017

research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.

February 1989 in “PubMed”

A genetic hair protein variant is more common in Japanese people and is inherited.

research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

2 citations , July 2015 in “Archives of Dermatological Research”

A new gene variant in the DSP gene is linked to a unique type of hair loss.

research Identification and Detection of Finasteride Polymorphs in Finasteride Tablets by FT-Raman Spectroscopy

January 2020 in “Asian Journal of Chemistry”

Raman spectroscopy can identify finasteride polymorphs in tablets.

research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague

January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases”

Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.

research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE

June 2020 in “Zenodo (CERN European Organization for Nuclear Research)”

Robertsonian translocation can cause recurrent miscarriages.

research Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds

September 2022 in “Canadian journal of animal science”

Certain gene variations are linked to the thickness of cashmere goat hair.

research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits

1 citations , January 2020 in “Research Square (Research Square)”

Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.

research Concerted gene duplications in the two keratin gene families

53 citations , May 1988 in “Journal of Molecular Evolution”

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 Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

62 citations , January 2010 in “Hormone research in paediatrics”

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity

January 2025 in “Clinical Cosmetic and Investigational Dermatology”

Genetic testing is crucial for diagnosing rare hair loss disorders.

research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population

12 citations , December 2013 in “Immunological Investigations”

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research A Case Report of Werner’s Syndrome With a Novel Mutation From India

4 citations , May 2020 in “Cureus”

A new genetic mutation causing Werner's syndrome was found in an Indian man.

Vitamin D Receptor Polymorphisms and Polycystic Ovary Syndrome: A Systematic Review

research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review

36 citations , January 2017 in “Journal of Obstetrics and Gynaecology Research”

The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.

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