2 citations
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July 2025 in “Drug development & registration” A new algorithm accurately analyzes animal coat and skin colors quickly and easily.
4 citations
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September 2020 in “Journal of Cutaneous Pathology”
5 citations
,
September 2011 in “Pediatric Dermatology” Two young siblings experienced hair loss without hormone issues or other skin problems.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
33 citations
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September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
April 2016 in “Journal of Investigative Dermatology” Removing alkaline phosphatase from human skin cells hinders the creation of new hair follicles.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
July 2025 in “INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH” Trichoscopy is crucial for diagnosing alopecia areata by identifying specific hair features.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
82 citations
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October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
1 citations
,
July 2018 in “Elsevier eBooks” Alopecia Areata is an autoimmune hair loss condition, with various treatments showing mixed effectiveness and no guaranteed cure.
161 citations
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March 1992 in “International Journal of Dermatology” Alopecia areata often starts before age 20, is more common in women, and may have a genetic link with other autoimmune diseases.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
69 citations
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July 2002 in “Clinical and Experimental Dermatology” Alopecia areata is influenced by genetics and immune system factors, and better understanding could improve treatments.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
1 citations
,
May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
109 citations
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May 2011 in “Dermatologic Therapy” Alopecia areata is a type of hair loss that can lead to complete baldness, often associated with other autoimmune conditions, and half of the cases may see hair return within a year.
10 citations
,
May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The ALADIN score can predict how well patients with alopecia areata will respond to JAK inhibitor treatments.