7 citations
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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.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
11 citations
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January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
53 citations
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May 1988 in “Journal of Molecular Evolution”
3 citations
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July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 17 is important for skin's response to radiation, affecting many genes and cell division.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
November 2022 in “Journal of Investigative Dermatology” The study found that skin inflammation and immune response pathways are activated in Solar Urticaria patients after UV exposure, unlike in healthy people.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
November 2024 in “Rheumatology Advances in Practice” Monitor for early signs of azathioprine toxicity and check blood counts regularly.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
January 2025 in “EXPERIMENTAL ANIMALS” Gamma-ray exposure improves genome editing efficiency in mice using the i-GONAD method.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
March 2026 in “Journal of Personalized Medicine” Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.