May 2006 in “Frontiers in Neuroendocrinology” Progesterone and its metabolites affect myelin protein expression differently in male and female rat Schwann cells.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
June 2016 in “Annals of the rheumatic diseases” Methotrexate is effective for treating rheumatoid arthritis but requires regular monitoring.
1 citations
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February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Suppressing very long chain fatty acids is linked to skin cancer.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
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.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
2 citations
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April 2023 in “Curēus” Valproic acid can cause muscle damage and liver issues, which improve after stopping the drug.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
6 citations
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January 2019 in “Indian Journal of Pharmacology” Melitane 5% and hair supplements improved hair color in a 14-year-old with early graying.
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
1 citations
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December 2024 in “Case Reports in Dermatology” Cyclophosphamide likely causes skin darkening by affecting hair follicles.
6 citations
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May 2002 in “British journal of dermatology/British journal of dermatology, Supplement” A rare skin condition linked to leukemia improved with chemotherapy.
1 citations
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April 2022 in “Rheumatology” Juvenile dermatomyositis can worsen quickly and needs strong treatment.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
6 citations
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
16 citations
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May 2006 in “PubMed” Alpha-melanocyte-stimulating hormone helps manage skin inflammation and protect against UV damage.
7 citations
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June 2021 in “Amino acids” Human hair protein modifications could potentially indicate heart disease risk.