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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
11 citations
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October 2017 in “Oncotarget” Gsdma3 affects hair growth by controlling Wnt5a, which influences hair cell development.
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
15 citations
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May 2016 in “Archives of Dermatological Research” ULBP3 could be a marker for diagnosing alopecia areata incognita and may be linked to its cause and development.
1 citations
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January 2017 in “The Annals of Clinical and Analytical Medicine” Vitamin D receptor gene changes don't affect alopecia areata risk.
3 citations
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December 2010 in “Annals of tropical paediatrics” A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
1 citations
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January 2025 in “Archives of Dermatological Research” Higher levels of IL-1R1 and hsa-miR-19b-3p may help diagnose and predict alopecia areata severity.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
July 2025 in “Journal of Investigative Dermatology”
26 citations
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March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
100 citations
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October 1986 in “Clinical Endocrinology” Alopecia indicates more severe resistance to 1,25-dihydroxyvitamin D.
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January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
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October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
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May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
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January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
April 2024 in “Communications biology” Enzymes involved in Vitamin A metabolism affect hair growth and type in mice.
63 citations
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
December 2025 in “ILDS-DEV” 3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.