321 citations
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March 2015 in “Nature” Super-enhancers controlled by pioneer factors like SOX9 are crucial for stem cell adaptability and identity.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
324 citations
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May 2002 in “Oncogene” 13 citations
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January 2018 in “Advances in experimental medicine and biology” The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
28 citations
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October 2014 in “Development” Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
88 citations
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May 2005 in “Journal of Dermatological Science” Versican, a protein, is less present in thinning hair follicles and this decrease might contribute to common hair loss in men.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
60 citations
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July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
56 citations
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December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
19 citations
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November 2017 in “Journal of Pharmaceutical Sciences” A new gel containing minoxidil can treat hair loss effectively, potentially reducing side effects and improving treatment.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
10 citations
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January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.