1 citations
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May 2007 in “PubMed” Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
January 2026 in “Experimental Dermatology” Keratinocytes contribute to hidradenitis suppurativa by causing inflammation and worsening the condition.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
August 2024 in “Clinical Case Reports” Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
September 2022 in “Frontiers in Medicine” New treatments and drugs show promise for improving skin pigmentation and regeneration.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
Vitamin D receptor helps prevent skin tumors.
October 2005 in “The Journal of clinical investigation/The journal of clinical investigation” Genetic manipulations that extend lifespan in mice may not work as effectively in humans.
45 citations
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March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
6 citations
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January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
688 citations
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June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.