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.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
24 citations
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December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
49 citations
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January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
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.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
28 citations
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December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
50 citations
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September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
5 citations
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September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
2 citations
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March 2023 in “Research Square (Research Square)” Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.