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.
3 citations
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May 1999 in “Dermatologic Surgery” Dr. Connelly agrees that linear basal cell carcinomas might be more aggressive but highlights the study's lack of clear criteria to identify them.
March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
9 citations
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June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
January 2009 in “China Practical Medicine” Certain genes help dermal papillae cells in hair follicles grow and group together.
1 citations
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December 2023 in “JAAD International” Mast cells may significantly contribute to central centrifugal cicatricial alopecia.
13 citations
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January 2012 in “Dermatology” Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The RHC complex with nicotinamide promotes hair growth and health.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” IL-15 promotes hair growth and protects hair follicles.
8 citations
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
January 2025 in “Nature Communications” Large-scale reconstructions enhance understanding of vibrissal sensory mapping in the brain.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
1 citations
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” CD25+ CD4+ Tregs and certain plasma proteins are linked to hair loss.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
7 citations
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December 2014 in “Journal of dermatology” Hair shaft miR-221 levels can help detect malignant melanoma.
1 citations
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June 2006 in “Experimental dermatology” Acetylcholine receptors might be involved in the development of acne inversa and smoking could worsen the condition.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.