1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations
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February 2017 in “Journal of gynecology and womens health” The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
49 citations
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December 2007 in “Fertility and Sterility” Stopping finasteride improved sperm counts in two men, reducing the need for fertility treatments.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
20 citations
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December 2021 in “Plants” Tamarix aphylla may be effective for various medical conditions, but more research is needed to confirm its safety and effectiveness.
18 citations
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August 2024 in “eLife” JAK inhibition may help manage autoimmune conditions in Down syndrome.
15 citations
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January 2020 in “ILAR Journal” Nonhuman primates are valuable in research but their natural health variations can complicate study results.
9 citations
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October 2017 in “Translational pediatrics” Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
3 citations
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May 2025 in “Clinical Endocrinology” Evaluate and manage androgen excess in women with a systematic approach, considering both physical and psychological impacts.
3 citations
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September 2023 in “Stem Cell Research & Therapy” Stem cells can be used to create long-lasting skin cells for treating pigment disorders.
3 citations
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May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
2 citations
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December 2019 in “Cureus” A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
February 2026 in “World Academy of Sciences Journal” Lymphoma should be considered in unusual scalp hair loss cases, as treatment can work but may lead to severe complications.
February 2026 in “Andrology” Post-orchidectomy semen has better DNA integrity for fertility treatments.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” Diagnosing PCOS is challenging due to its complex and varied symptoms.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
February 2024 in “Endocrinology and Disorders” Balanced hormones are crucial for women's health, and can be managed with lifestyle changes or hormone therapy if needed.
January 2024 in “Biology of sex differences” Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.
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.
October 2022 in “Frontiers in Endocrinology” New tools show that in fish, NPY increases feeding and somatostatin decreases it.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
November 2024 in “Burns & Trauma” Skin organoids help improve wound healing and tissue repair.
6 citations
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December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
38 citations
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October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.