35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
49 citations
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January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
9 citations
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April 2018 in “Canadian Journal of Animal Science” LEF-1 boosts cell growth in goat hair follicles, aiding cashmere production.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
August 2009 in “Mechanisms of Development” Adult hair follicle cells can create new hair follicles from corneal cells with the right support.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
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March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
9 citations
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December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
7 citations
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December 1956 in “Science” 1 citations
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December 1956 in “Science” November 2016 in “The Molecular Biology Society of Japan”
39 citations
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November 2015 in “Nanomedicine” Improved Finasteride delivery for hair loss treatment.
39 citations
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October 2013 in “Plastic and Reconstructive Surgery” Human alpha defensin 5 helps heal wounds, reduce bacteria, and grow hair on burned skin.
13 citations
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January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
10 citations
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June 2014 in “Experimental Dermatology” Decorin, a protein, may help start hair growth and could be used to treat hair loss.
2 citations
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May 2019 in “Advances in wound care” Blood-derived CD34+ cells speed up healing, reduce scarring, and regrow hair in skin wounds.
1 citations
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January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
July 2016 in “Experimental Dermatology” New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
July 2016 in “Journal of Investigative Dermatology” R-spondin2 may help treat hair loss, gene differences could explain baldness, a peptide's regulation is linked to psoriasis, B-defensin gene copies may affect a skin condition's risk and severity, and potential markers and targets for alopecia areata were identified.
August 2013 in “Nature Reviews Drug Discovery” New treatments may restore cancer-blocking proteins, slow prostate cancer, identify drug targets, and potentially regrow hair.