13 citations
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September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
10 citations
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May 2020 in “International Journal of Molecular Sciences” Hair follicles can be used to study gene mutations in Stargardt disease.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
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August 2021 in “Arhivʺ vnutrennej mediciny” Hormonal imbalances can cause hair loss, and understanding them can help develop better treatments.
October 2024 in “Archives of Dermatological Research” Researchers made a mouse model with curly hair and hair loss by editing a gene.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
September 2025 in “Frontiers in Immunology” Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
854 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
46 citations
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November 2022 in “The Journal of Dermatology” Bullous pemphigoid is influenced by genetic factors, immune cell dysfunction, aging, and triggers, with treatment often improving symptoms.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
April 2025 in “BMC Urology” Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
188 citations
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January 2022 in “PubMed” Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.