25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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February 1991 in “Journal of Biological Chemistry”
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
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January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
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September 2015 Gefitinib treatment led to unexpected hair growth in two lung cancer patients.
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
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April 1982 in “The Journal of Dermatology” Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
19 citations
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July 1994 in “Journal of Dermatological Science” Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
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October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
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April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
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June 2009 in “Journal of Cutaneous Pathology” Erlotinib can cause nonscarring hair loss and itchy skin.
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
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August 2013 in “Journal of the American Academy of Dermatology” A new method quickly detects hair changes from EGFR inhibitors using a microscope.
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.