March 2026 in “SKIN The Journal of Cutaneous Medicine” All parts of the CLASI-A score are important for assessing skin activity in cutaneous lupus erythematosus.
27 citations
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February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
4 citations
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January 2017 in “Biological & pharmaceutical bulletin” Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
CCC1 is essential for ion balance and proper plant cell function.
6 citations
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November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
November 2021 in “Circulation” SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
January 2011 in “Linchuang pifuke zazhi” 1 citations
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January 1999 in “Dermatology” 15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
41 citations
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August 1988 in “Journal of The American Academy of Dermatology” A woman with subacute cutaneous lupus erythematosus had widespread skin symptoms triggered by medication and sunlight, which improved with specific treatments.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
2 citations
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June 2022 in “International Journal of Molecular Sciences” Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
1 citations
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September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
71 citations
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May 2019 in “Rheumatology” Tph cells are linked to the severity of systemic lupus erythematosus.
July 2021 in “Authorea (Authorea)” Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.