7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
14 citations
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July 2010 in “British Journal of Dermatology” Estrogen and prolactin may play bigger roles in female hair loss than previously thought.
2 citations
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May 2006 in “Women's Health Medicine” Ovulation disorders are a major cause of infertility and menstrual problems in women.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
1 citations
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April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
March 1993 in “Neuroscience letters” Biotin is important for metabolism, with specific daily intake recommendations, and deficiency can cause health problems.
6 citations
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April 2010 in “Journal of Dermatological Science” Laminin-511 may help promote hair growth, while laminin-332 does not affect hair loss.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
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.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
10 citations
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January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
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.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
104 citations
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July 1994 in “The Journal of Cell Biology” Basonuclin helps keratinocytes multiply and prevents them from fully maturing.
218 citations
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January 2013 in “The Lancet Oncology” Chemotherapy causes hair loss by damaging hair follicles and stem cells, with more research needed for prevention and treatment.
13 citations
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December 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Nicotinamide applied to the scalp can slow down hair growth.
November 2022 in “Brazilian journal of veterinary pathology” The Yorkshire terrier has a genetic hair loss condition not improved by treatment.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
14 citations
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March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
86 citations
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
10 citations
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January 2001 in “PubMed” Laminin, type IV collagen, and fibronectin help develop skin and hair structures in embryos.