July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
231 citations
,
July 2008 in “Nutrition reviews” Diet changes can protect against harmful environmental effects on fetal development.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
13 citations
,
September 2011 in “American Journal of Clinical Dermatology” The oral contraceptive ethinylestradiol/chlormadinone acetate is effective in reducing acne and improving other skin conditions related to high androgen levels.
13 citations
,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
11 citations
,
July 2012 in “Current Opinion in Pediatrics” Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
8 citations
,
October 2016 in “Experimental dermatology” Hair follicles may help teach the immune system to tolerate new self-antigens, but this can sometimes cause hair loss.
November 2025 in “Bioscientia Medicina Journal of Biomedicine and Translational Research” A combined treatment with microneedling and vitamin D3 led to complete hair regrowth in a woman with stubborn patch alopecia areata.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
10 citations
,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
2 citations
,
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
44 citations
,
January 1984 in “Molecular and Cellular Biochemistry” 24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
25 citations
,
May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.