January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
1 citations
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July 2025 in “BMC Medicine” PCOS affects 11% of women, highlighting the need for standardized diagnosis.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
April 2026 in “Biomolecules” New treatments for PCOS using smart drug delivery, metabolic changes, and AI show promise but need more research.
July 2025 in “Journal of Investigative Dermatology” May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
8 citations
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October 2024 in “Cochrane Database of Systematic Reviews” Tolvaptan can slow kidney disease progression, but doesn't affect mortality or kidney failure.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
1 citations
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October 2020 in “Journal of the American Society of Nephrology” Proguanil can cause anemia and hair loss in kidney disease patients.
6 citations
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
16 citations
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January 2023 in “Gynecological Endocrinology” Liver damage in PCOS is linked to iron overload and cell death due to the miR-761-hepcidin/GPX4 pathway.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
October 2025 in “Cermin Dunia Kedokteran” Chronic obstructive pulmonary disease (COPD) is managed with personalized medication to ease symptoms and improve life quality.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
1 citations
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November 2022 in “International Journal of Molecular Sciences” Kelulut Honey can help regulate sex hormone receptors in rats with Polycystic Ovary Syndrome, similar to common medications.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
19 citations
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March 2022 in “International Journal of Environmental Research and Public Health” Certain brain hormones and chemicals are linked to the development of Polycystic Ovary Syndrome.
PCOS has a strong genetic basis, but more research is needed to fully understand it.