December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
1 citations
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November 2001 in “Acc Current Journal Review” Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
67 citations
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January 1992 in “Journal of Investigative Dermatology”
1 citations
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March 2023 in “International journal of rheumatic diseases” Relatives of lupus patients show signs of immune system activity but not full-blown lupus.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
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.
41 citations
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January 2022 in “Clinical Immunology” Females are more prone to lupus and arthritis due to X chromosome factors.
2 citations
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January 2023 in “Uro” UHP-sCESr is as effective as HESr for treating BPH symptoms.
September 2023 in “Journal of the American Academy of Dermatology”
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
6 citations
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March 2019 in “Medical science monitor basic research/Medical science monitor. Basic research” VEGFR-2 is active in hair follicles, sebaceous glands, sweat glands, and skin on the human scalp.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
2 citations
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July 2005 in “International Joint Conference on Artificial Intelligence” EREG therapy may help treat hair loss by promoting hair growth.
5 citations
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
4 citations
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December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
30 citations
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October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
Meis2 is essential for touch sensation and nerve function in mice.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
January 2016 in “e-Oftalmo CBO Revista Digital de Oftalmologia” CSC is linked to mineralocorticoid receptor damage, stress, and steroid use, with treatments including drugs and laser therapies to prevent eye damage.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
October 2024 in “Endocrinology Insights” The Bethesda system is effective for identifying thyroid cancer but has low sensitivity.