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.
20 citations
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May 2016 in “Journal of Cutaneous Pathology” Using CD123 to detect certain immune cells helps diagnose a type of hair loss condition.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
12 citations
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October 2001 in “Pediatric Dermatology” Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
1 citations
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August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
4 citations
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
2 citations
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January 1968 in “PubMed” Sulfur-containing radioprotectors can protect hair from X-ray damage if given before exposure but worsen damage if given after.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
7 citations
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April 1996 in “British Journal of Dermatology” Hair structural proteins are synthesized sequentially in specific cells, offering a new way to study hair proteins and defects.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
26 citations
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August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
354 citations
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
April 2019 in “Journal of Investigative Dermatology” Y27632 increases cell growth through EGFR signaling, not ROCK1/2.
December 2025 in “Biomolecules” Targeting protein S-palmitoylation could lead to new skin disease treatments.
1 citations
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June 2019 in “Journal of Cutaneous Immunology and Allergy” Squaric acid dibutylester can cause severe skin reactions in people with allergies.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
277 citations
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October 1982 in “The Journal of Cell Biology” Basal-cell epitheliomas and the pilosebaceous tract share a unique keratin, distinguishing them from other skin areas.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
16 citations
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November 2018 in “Medicinal Chemistry” The compound GD-23 may reduce anxiety like diazepam by targeting the TSPO receptor.