January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
July 2025 in “Journal of Investigative Dermatology”
4 citations
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April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
1 citations
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February 2023 in “Tropical Journal of Pharmaceutical Research” Polysulfonic acid mucopolysaccharide can reduce skin scarring.
45 citations
,
July 2009 in “Journal of Investigative Dermatology” The S100A4 protein is more common in psoriatic skin and could be a target for treating psoriasis.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
32 citations
,
August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
4 citations
,
September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
January 2025 in “Orvosi Hetilap” The SASI bypass surgery leads to significant weight loss and improves health conditions with minimal absorption issues.
1 citations
,
January 2004 in “Linchuang pifuke zazhi” Substance P helps hair growth by extending the growth phase and affecting certain growth factors.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
October 2022 in “Amplla Editora eBooks” Pre-natal, internal, and external factors may contribute to the development of Autism Spectrum Disorder (ASD).
10 citations
,
September 2022 in “Psychiatry and Clinical Neurosciences” Long COVID affects over half of COVID-19 survivors, causing a range of symptoms like fatigue and neurological issues, with no specific treatment yet.
50 citations
,
September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
September 2023 in “Journal of the American Academy of Dermatology” Including special area involvement helps identify more psoriasis patients who may need systemic treatment.
33 citations
,
April 2003 in “Oncogene” 305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
30 citations
,
February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
13 citations
,
September 2019 in “EBioMedicine” sPLA2-IIA increases growth in hair follicle stem cells and cancer cells, suggesting it could be targeted for hair growth and cancer treatment.
4 citations
,
June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
23 citations
,
January 2024 in “Journal of Investigative Dermatology” Corticosteroids can reduce scarring in acne keloidalis by targeting specific cells.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.