18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
2 citations
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July 2017 in “Oncology Letters” Lacking cyclin D3 reduces skin cancer growth without affecting normal skin cell growth.
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.
January 2026 in “Biochemical Pharmacology”
2 citations
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January 1997 in “Journal of Clinical Biochemistry and Nutrition” Biotin deficiency causes severe hair loss and weight reduction in germ-free mice.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
May 2023 in “The Journal of Immunology” Expanding CD4+ Tregs can stop hair loss in alopecia areata.
1 citations
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September 1993 in “Archives of Disease in Childhood” Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
164 citations
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December 1984 in “Proceedings of the National Academy of Sciences” TCDD reduces EGF receptor activity and causes various developmental changes in animals.
1 citations
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January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
November 2022 in “Journal of Investigative Dermatology” Cell-based therapy using specific immune cells may help treat alopecia areata by promoting hair regrowth.
February 2026 in “International Journal of Molecular Sciences” Removing Lrig1-positive cells in mice leads to temporary loss of sebaceous glands.
26 citations
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January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
126 citations
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November 1987 in “The Journal of Pediatrics” Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
6 citations
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April 2022 in “Journal of diabetes research” Type 2 diabetes slows down skin and hair renewal by blocking important stem cell activation in mice.
January 2024 in “Inflammation and regeneration” Th22 cells are essential for Tβ15-induced hair growth in mice.
12 citations
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January 1987 in “Carcinogenesis” TCDD changes skin cell growth and keratin production in mice.
8 citations
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
6 citations
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August 2014 in “Toxicologic pathology” Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
26 citations
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February 1978 in “Journal of Pediatric Surgery” Long-term TPN in children can cause zinc deficiency, leading to health issues.