February 2026 in “UiTM Institutional Repositories (Universiti Teknologi MARA)” Cis-UCA can form new compounds without enzymes, and sulphide donors reduce its UVB-induced toxicity in skin cells.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
17 citations
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August 2015 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that urine metabolites M1b or M4 are the best indicators of ATD use in horses, with detection possible up to 77 hours in urine and 28 hours in blood.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
4 citations
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January 1993 in “Clinical Chemistry and Laboratory Medicine (CCLM)” The new method is 1000 times more sensitive for measuring hair growth.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
26 citations
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January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
21 citations
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January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
124 citations
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July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
The treatment was not recommended due to limited effectiveness and significant side effects.
54 citations
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January 1984 in “Molecular and Cellular Biochemistry”
3 citations
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September 2022 in “Animal biotechnology” lncRNA MTC affects protein levels in goat skin cells, impacting hair growth.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Tet1, Tet2, and Tet3 are important for the development of hair follicles and determining hair shape by controlling hair keratin genes.
22 citations
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November 2002 in “Clinical journal of oncology nursing” Arsenic trioxide effectively treats relapsed acute promyelocytic leukemia with manageable side effects.
January 2004 in “Linchuang pifuke zazhi” All-trans retinoic acid helps amelanotic melanocytes in hair follicles develop and produce pigment while reducing their growth.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
3 citations
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January 1982 in “Australian journal of biological sciences” Ethionine significantly inhibits wool growth in sheep but not hair growth in mice or rats.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
44 citations
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March 1947 in “Endocrinology” Thiourea compounds affect hair growth and pigmentation in black rats.