10 citations
,
March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
A new genetic mutation was found causing hair and eye issues in a boy.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
Melatonin shortens the hair growth cycle by increasing PDGFA gene expression.
June 2022 in “Journal of The European Academy of Dermatology and Venereology” Microneedling with topical dutasteride improves hair growth in men with hair loss and is safe to use.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
11 citations
,
September 2020 in “OncoTargets and Therapy” Dihydrotestosterone increases growth and spread of human brain cancer cells, and blocking its formation might help treat this cancer.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
72 citations
,
July 2002 in “Journal of Investigative Dermatology” Desmoglein 1 can partly make up for the loss of Desmoglein 3 in hair adhesion but not in mucous membranes.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
13 citations
,
March 2012 in “The American Journal of Surgery” Modified laparoscopic sleeve gastrectomy effectively controls diabetes and treats obesity with minimal complications.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
44 citations
,
October 2016 in “Epilepsia” 2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ (PGD₂) could help treat hair loss.
June 2026 in “The Journal of Sexual Medicine” Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
3 citations
,
November 2024 in “Egyptian Journal of Medical Human Genetics” SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.