4 citations
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March 2013 in “InTech eBooks” Confocal Laser Scanning Microscopy (CLSM) is a useful tool for studying how drugs interact with skin and diagnosing skin disorders, despite some limitations.
3 citations
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September 2015 in “Journal of Vascular Surgery” Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
40 citations
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October 2012 in “Journal of the American Academy of Dermatology” CLASI is a valid tool for assessing skin activity and damage in lupus patients.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
25 citations
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October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
14 citations
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January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
28 citations
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September 2014 in “Journal of Veterinary Internal Medicine” VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
55 citations
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June 2014 in “Nature Communications” Tcf3 helps cells move and heal wounds by controlling lipocalin 2.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
Cadd4 effectively reduces cholesterol levels without side effects.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
July 2025 in “Journal of Investigative Dermatology”
36 citations
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January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
354 citations
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
CCC1 is essential for ion balance and proper plant cell function.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.