Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
April 2024 in “Journal of pharmacy & pharmacognosy research” A compound from Calophyllum inophyllum L. leaf may help treat non-small cell lung cancer.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
13 citations
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April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
19 citations
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February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
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.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
10 citations
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
Defective nuclear transport may cause gene expression changes in Progeria.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
7 citations
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August 2020 in “Plastic and reconstructive surgery. Global open” QR 678 and QR 678 Neo are safe and promote hair growth, potentially helping chemotherapy-induced hair loss.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
52 citations
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February 2003 in “Archives of dermatology” 9-cis-retinoic acid showed some effectiveness in treating AIDS-related Kaposi sarcoma but had significant side effects at higher doses.
27 citations
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December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
20 citations
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October 2005 in “Archives of Dermatological Research”
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.