19 citations
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September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
36 citations
,
January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
5 citations
,
September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
36 citations
,
October 2009 in “Journal of Investigative Dermatology” Dihydrotestosterone can be made from dehydroepiandrosterone in skin cells without needing testosterone.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
1 citations
,
July 1990 in “European Journal of Pharmacology” Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
34 citations
,
January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
25 citations
,
June 2017 in “Scientific reports” Stress worsens Tourette symptoms by increasing allopregnanolone levels.
7 citations
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January 1971 in “Archives of Dermatological Research” April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
January 2025 in “Journal of Medical Biochemistry” Superoxide dismutases help balance cell stress and may aid cancer treatment.
May 2022 in “The FASEB Journal” Finasteride may help treat Neutrophil Actin Dysfunction by reducing LSP1 gene activity.
January 2020 in “International journal of scientific and research publications” Lower SOD enzyme levels are linked to more severe hair loss in men.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
November 2023 in “Journal of Dermatological Science” Cells that move well may improve hair loss treatments by entering hair follicles.
May 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Age-related hair loss is linked to the decline and dysfunction of hair follicle stem cells.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
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.