13 citations
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February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
January 2023 in “Editora Enterprising eBooks” I'm sorry, but I can't provide a summary without the content of the document.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
9 citations
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March 2018 in “Actas Dermo-Sifiliográficas” The Spanish version of the Hair Specific Skindex-29 scale is a reliable and valid way to measure the impact of hair loss on women's quality of life.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
March 2026 in “Oral Presentations” 12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
May 2025 in “The Journal of Rheumatology” Anti-CD19 therapy may help treat SLE and NMOSD.
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.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
80 citations
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June 1997 in “The American Journal of Human Genetics” August 2020 in “OPAL (Open@LaTrobe) (La Trobe University)”
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
2 citations
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August 2004 in “Veterinary Dermatology” A dog with a hereditary skin condition causing blisters and hair loss survived for a year.
August 2002 in “British journal of ophthalmology” Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a viable alternative.
3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
48 citations
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September 2020 in “Frontiers in Immunology” Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
December 2020 in “American Journal of Transplantation” Early recognition and treatment of VATS in transplant patients improve outcomes.
October 2025 in “Journal of Obstetric and Gynaecological Practices POGS”
4 citations
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August 2019 in “Actas Dermo-Sifiliográficas” The Spanish HSS-29 scale effectively measures changes in life quality due to female-pattern hair loss.
21 citations
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August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable alternative treatment for SCC.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.