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research Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report

3 citations, August 2021 in “Clinical Case Reports”

Genetic testing is crucial before giving azathioprine to avoid severe side effects.

research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness

48 citations, May 2015 in “PLOS ONE”

DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.

research NUDT15, FTO, and RUNX1 Genetic Variants and Thiopurine Intolerance Among Japanese Patients With Inflammatory Bowel Diseases

40 citations, January 2017 in “Intestinal Research”

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health

29 citations, November 2022 in “Nature Medicine”

Genetic variations greatly affect individual metabolism and can impact health and disease risk.

research Genome-Wide Association Study of Skin Complex Diseases

25 citations, March 2012 in “Journal of Dermatological Science”

Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.

research Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle

9 citations, June 2020 in “Animal genetics”

Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.

research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men

9 citations, September 2014 in “Cancer Epidemiology, Biomarkers & Prevention”

Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.

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 High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

2 citations, July 2022 in “Journal of the Endocrine Society”

Some women with PCOS have rare genetic variants linked to the condition.

research Genetics of Blond Hair

May 2012 in “Nature Genetics”

Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.

Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

research Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

1 citations, September 2023 in “Acta dermato-venereologica”

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

research Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles

1 citations, September 2023 in “Clinical, cosmetic and investigational dermatology”

Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.

Selected Variants of the Steroid-5-Alpha-Reductase Isoforms SRD5A1 and SRD5A2 and the Sex Steroid Hormone Receptors ESR1, ESR2, and PGR: No Association with Female Pattern Hair Loss Identified

research Selected Variants of the Steroid-5-Alpha-Reductase Isoforms SRD5A1 and SRD5A2 and the Sex Steroid Hormone Receptors ESR1, ESR2, and PGR: No Association with Female Pattern Hair Loss Identified

18 citations, February 2012 in “Experimental Dermatology”

No link found between specific genes and female pattern hair loss.

research 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia

57 citations, February 2007 in “International Journal of Cancer”

A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.

research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene

December 2023 in “JCEM case reports”

A new gene variant causes glucocorticoid resistance in a mother and son.

Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

20 citations, June 2019 in “Experimental Dermatology”

The research suggests that autophagy-related genes might play a role in causing alopecia areata.

research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis

18 citations, January 2013 in “PLoS ONE”

HLA-DRB5 and other genes may be linked to alopecia universalis.

research Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy

September 2019 in “Journal of Investigative Dermatology”

Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations, July 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Genetic Predictors of Testosterone and Their Associations with Cardiovascular Disease and Risk Factors: A Mendelian Randomization Investigation

50 citations, May 2018 in “International journal of cardiology”

Testosterone is linked to cardiovascular risk factors and stroke, but its exact role is unclear.

research Hyperandrogenism in Polycystic Ovarian Syndrome and Role of CYP Gene Variants: A Review

49 citations, November 2019 in “Egyptian Journal of Medical Human Genetics”

Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.

research Genetic Variation in the Ovine KAP22-1 Gene and Its Effect on Wool Traits in Egyptian Sheep

3 citations, August 2022 in “Archives animal breeding/Archiv für Tierzucht”

Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.

research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience

1 citations, October 2023 in “Frontiers in Oncology”

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies

research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies

253 citations, March 2006 in “The Journal of Clinical Endocrinology and Metabolism”

Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.

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 The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity

55 citations, November 2010 in “Journal of Allergy and Clinical Immunology”

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

research Genetic Basis of Polycystic Ovary Syndrome

18 citations, July 2010 in “Expert Review of Endocrinology & Metabolism”

The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.

The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

11 citations, July 2014 in “Gene”

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

research Selected Variants of the Melanocortin 4 Receptor Gene (MC4R) Do Not Confer Susceptibility to Female Pattern Hair Loss

9 citations, November 2012 in “Archives of Dermatological Research”

MC4R gene variants not linked to female hair loss.

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