18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
24 citations
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January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
92 citations
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January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
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June 2023 in “Experimental Dermatology” Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
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October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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September 2010 in “Genomics” The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
1 citations
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February 1991 in “Journal of Biological Chemistry” 10 citations
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March 2021 in “Clinical Cosmetic and Investigational Dermatology” Certain gene variants are linked to severe acne, especially in males.
35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
29 citations
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September 2017 in “Genes” Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
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December 2008 in “Frontiers of Agriculture in China” The Cashmere goat hair keratin gene is crucial for hair structure.
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
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December 1995 in “Journal of Cell Science” Nexin 1 may help control hair growth.
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
April 2017 in “Journal of Investigative Dermatology” Found new possible treatments for hair loss.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
January 2014 in “Journal of Investigative Dermatology” Proteins like aPKC and PDGF-AA, substances like adenosine and ATP, and adipose-derived stem cells all play important roles in hair growth and health, and could potentially be used to treat hair loss and skin conditions.
56 citations
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November 2007 in “Molecular and cellular endocrinology” Two enzymes regulate androgen receptor activity, affecting treatments for androgen insufficiency and benign prostatic hyperplasia.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.