May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
2 citations
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February 2024 in “Medicine” A mutation in the IL2RA gene increases the risk of alopecia areata.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
5 citations
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September 2018 in “Acta histochemica” The mTOR pathway proteins are altered in the hair follicles of patients with Lichen Planopilaris and Frontal Fibrosing Alopecia.
3 citations
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May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
January 1999 in “Journal of Investigative Dermatology” Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
October 2024 in “American Journal of Case Reports” Baricitinib improved hair loss and arthritis in a lupus patient.
4 citations
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January 2014 in “Bone marrow transplantation” Alopecia areata can be transferred through stem cell transplants from affected siblings.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
20 citations
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October 2005 in “Archives of Dermatological Research”
January 2018 in “General internal medicine and clinical innovations” Busulfan/cyclophosphamide and total bone irradiation are equally effective for AML transplants.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
68 citations
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November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
3 citations
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April 2010 in “The FASEB Journal” Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
2 citations
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October 2021 in “JID innovations” Uterine leiomyomas don't significantly change gene expression in the scalp of people with Central Centrifugal Cicatricial Alopecia.
21 citations
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November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Scarred skin in lichen planopilaris loses immune cells due to a decrease in a specific protein in skin cells.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
18 citations
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February 2023 in “eLife” ILC1-like cells can independently cause alopecia areata.