20 citations
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December 2012 in “Journal of molecular structure” The study found that thioglycolic acid breaks down hair bonds more consistently than l-cysteine, which is less damaging to hair.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
53 citations
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March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
7 citations
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October 2008 in “Arthritis Care & Research” Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
20 citations
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January 2008 in “Journal of Korean Medical Science” NGAL may help maintain skin balance and is linked to skin disorders and cancers.
135 citations
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October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” Trichohyalin is modified by enzymes to form strong structures in hair cells.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
138 citations
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November 1977 in “Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics” ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
16 citations
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January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.
3 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
6 citations
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December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
January 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
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.
46 citations
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June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
165 citations
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January 2008 in “Journal of biomaterials science. Polymer ed.” The peptide GHK-Cu helps heal and remodel tissue, improves skin and hair health, and has potential for treating age-related inflammatory diseases.
October 2004 in “Australian Prescriber” Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
September 2025 in “Journal of Clinical Medicine” Elevated granulysin levels may indicate disease activity in vitiligo and alopecia areata.
December 2021 in “Research Square (Research Square)” S100A4 and NMIIA promote tumor growth in glioblastoma by enhancing blood vessel functions.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
1 citations
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January 1996 Cysteine and arginine are essential for hair growth and thickness.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.