286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
44 citations
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May 2023 in “MedComm” PROTAC technology shows promise for cancer treatment but needs more effective E3 ligase recruiters.
April 2023 in “Journal of Investigative Dermatology” CGRP MAbs treatment for migraines may also improve rosacea symptoms, but more research is needed to confirm its effectiveness and safety.
1 citations
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July 2020 in “The Egyptian Journal of Hospital Medicine” The MDR1 C3435T polymorphism does not significantly affect methotrexate response in rheumatoid arthritis patients.
30 citations
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February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
54 citations
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May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
45 citations
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March 1997 in “Journal of Investigative Dermatology” 6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
Blocking CXCR4 may help treat hidradenitis suppurativa.
13 citations
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September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
52 citations
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May 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” Parathyroid hormone-related protein helps control hair growth phases in mice.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
38 citations
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April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.