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.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
January 2026 in “Journal of Clinical and Investigative Dermatology” A father and son in Yemen have a genetic condition causing hair loss and nail problems.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
January 2026 in “Journal of Dermatological Science” DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
May 2025 in “Hormone Research in Paediatrics” Persistent hyperparathyroidism doesn't stop rickets healing or phosphate level normalization in VDDR2A.
82 citations
,
October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
April 2019 in “Journal of Investigative Dermatology” Skin grafts from related donors significantly healed chronic wounds in patients with a severe skin condition over a year.
1 citations
,
November 2023 in “Rice” PRX102 is essential for rice root hair growth by helping transport substances to the tips.
6 citations
,
November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
4 citations
,
October 2023 in “Journal of Medicine and Life” UDCA reduces inflammation and joint damage in rheumatoid arthritis.
April 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The dfRootChip revealed how Arabidopsis roots adapt and grow in uneven conditions.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
April 2024 in “Anais Brasileiros de Dermatologia” 14 citations
,
May 2019 in “Chemosphere” Females have higher Dechlorane Plus in hair, while males have more in dorm dust.
1 citations
,
November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
20 citations
,
April 2011 in “British Journal of Dermatology” Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
170 citations
,
May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
57 citations
,
July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
11 citations
,
June 1979 in “British Journal of Dermatology” The enzyme system in hair follicles is similar to the liver's and is affected by certain inhibitors.
Individualized treatments may help manage Dercum's disease symptoms.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
13 citations
,
October 2017 in “Bioorganic & Medicinal Chemistry” Optimizing the structure of a specific compound greatly improved its effectiveness and precision for treating diabetic complications.
Adalimumab significantly improved Hidradenitis Suppurativa and quality of life in two patients.