17 citations
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August 1967 in “JAMA” The rapid corticotropin test is a quick and simple way to diagnose adrenal insufficiency.
16 citations
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October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
1 citations
,
October 2013 in “Our Dermatology Online” 5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
January 2023 in “Journal of the College of Physicians and Surgeons Pakistan” A rare ovarian tumor was successfully treated with surgery and chemotherapy.
December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
January 1986 in “Journal of Steroid Biochemistry” Women with severe acne, hirsutism, and androgenic alopecia often have higher levels of certain androgens, but the specific pattern can't be predicted just by looking at symptoms.
January 1986 in “Journal of Steroid Biochemistry” Lower testosterone levels in men may be linked to a higher risk of severe coronary artery disease.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
1 citations
,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
70 citations
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January 2000 in “Hormone Research in Paediatrics” SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
7 citations
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May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
28 citations
,
July 2005 in “Journal of Investigative Dermatology” Sca-1+ cells in newborn mouse skin may become fat cells.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.