29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
40 citations
,
December 2010 in “Human Genetics” October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
2 citations
,
October 2021 in “Bioinformation” Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
13 citations
,
October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
April 2023 in “Journal of Investigative Dermatology” PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
2 citations
,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
2 citations
,
July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.