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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
89 citations,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
81 citations,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
78 citations,
January 2000 in “Gynecological Endocrinology” Norgestimate is the most effective birth control progestin for reducing an enzyme linked to acne and excessive hair growth in women.
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October 2015 in “Experimental Dermatology” Acne patients have higher levels of mTOR in their skin, which could be linked to future metabolic disease.
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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May 2021 in “Journal of Nanobiotechnology” The 3D electrospun fibrous sponge is promising for tissue repair and healing diabetic wounds.
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September 1990 in “Biochemical Journal” Enzyme purified and characterized for minoxidil sulphation in rat liver.
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
21 citations,
June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
20 citations,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
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February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
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April 2019 in “Saudi pharmaceutical journal” Microparticles help caffeic acid stay longer in hair follicles for better treatment of folliculitis.
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
13 citations,
November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
10 citations,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
9 citations,
January 2019 in “Postepy Dermatologii I Alergologii” The skin acts like an endocrine organ, making hormones that affect skin diseases and respond to stress.
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
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January 2011 in “Journal of X-ray science and technology” Perming and bleaching damage hair differently, with bleached hair having more cysteic acid in the cuticle.
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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.
7 citations,
December 2020 in “ACS biomaterials science & engineering” Human hair keratins can form stable nanofiber networks that might help in tissue regeneration.
7 citations,
September 2017 in “Scientific Reports” Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
7 citations,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.