20 citations
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February 1968 in “Journal of Histochemistry & Cytochemistry” A new test more accurately detects citrulline in hair follicles and pilomatrixomas.
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.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
5 citations
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July 2021 in “Endocrinology, diabetes & metabolism” Glioblastoma cells can make androgens, which might help the tumor grow.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
1 citations
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July 2022 in “Clinical and Experimental Dermatology” Amino acid supplements may not be necessary for all women with chronic hair loss.
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October 1970 in “Archives of disease in childhood” Hair amino acid levels can indicate metabolic disorders.
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January 2013 8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
1 citations
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December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
30 citations
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August 2010 in “American Journal of Clinical Dermatology” Cetuximab can cause eyelash growth, which is rare but manageable.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
July 2024 in “Journal of Investigative Dermatology” Glutamine helps macrophages reduce inflammation and improve wound healing.
51 citations
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September 2020 in “Cell Metabolism” Glutamine metabolism affects hair stem cell maintenance and their ability to change back to stem cells.
5 citations
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January 2016 in “Indian dermatology online journal” A 25-year-old man with multiple skin tumors was successfully treated with acitretin and methotrexate.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
52 citations
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January 2001 in “Eye” Treating cystoid macular oedema in uveitis is difficult and risky.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.