1 citations
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January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
March 2025 in “The Open Dermatology Journal” Trichorrhexis nodosa is common hair breakage, often due to styling, and new treatments are being explored.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
26 citations
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January 1994 in “McGraw-Hill eBooks” Many hair loss conditions can be treated.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
67 citations
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December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
1 citations
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April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
30 citations
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May 1980 in “Journal of the American Academy of Dermatology” Alopecia areata can cause spotty white areas on nails.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
10 citations
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June 2021 in “EMBO reports” When skin blisters, healing the wound is more important than growing hair, and certain stem cells mainly fix the blisters without helping hair growth.
283 citations
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February 2011 in “Cell stem cell” COL17A1 is crucial for preventing hair graying and loss by supporting hair and pigment stem cells.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
49 citations
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November 2021 in “Annual review of pathology” Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
34 citations
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August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
18 citations
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April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.