5 citations
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March 2020 in “Thoracic Cancer” CT-707 is effective and safe for treating certain Chinese lung cancer patients.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
1 citations
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May 2011 in “Molecular Medicine Reports” The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
The document's conclusion cannot be provided because the document is not accessible or understandable.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
October 2012 in “Sax's Dangerous Properties of Industrial Materials” 
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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.
June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” The document's conclusion cannot be provided because the document is not readable or understandable.
August 2024 in “American Journal of Medical Genetics Part A” Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
September 2022 in “Piretc” The document's conclusion cannot be provided as the content is not available for parsing.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
February 2026 in “Toxicology Letters” MK-0773 is a moderate inhibitor of the SRD5A2 enzyme.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
July 1991 in “Endocrinology” The document contains an error.
May 2023 in “Elsevier eBooks” The document's conclusion cannot be provided because the document is not readable or understandable.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
The document's conclusion cannot be provided because the document is not accessible or understandable.
January 2016 in “Refubium (Universitätsbibliothek der Freien Universität Berlin)” CAP7.1 is generally safe at 200 mg/m²/day, but can cause fatigue, nausea, hair loss, fever, and blood-related issues.
June 2020 in “Journal of genetic medicine” The document's conclusion cannot be provided because the document is not accessible or understandable.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.