4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
7 citations
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October 2023 in “BMC Genomics” Noncoding RNAs help determine cashmere quality in goats.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
297 citations
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January 2002 in “Development” Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” Neuronatin is found in specific cells within rat testis, hair follicles, tongue, and pancreas, suggesting it has various roles in tissue development and function.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
54 citations
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July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
294 citations
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February 2011 in “Cell” Nephronectin helps attach muscle cells to hair follicles.
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.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
107 citations
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April 2014 in “The Plant cell” The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
86 citations
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August 2011 in “Toxicological sciences” TCDD speeds up skin barrier formation by increasing certain gene expressions.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
August 2012 in “Nature Cell Biology” A pathway helps maintain long telomeres in both stem and cancer cells.
91 citations
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December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
4 citations
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August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
December 2021 in “Morphologia” Neural crest cells could be used in regenerative medicine due to their ability to become different cell types.
36 citations
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September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.