12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
12 citations
,
November 2003 in “Journal of the American Academy of Dermatology” This study found hair regrowth in the majority of AA-affected mice and rats treated with diphencyprone, suggesting its potential utility for understanding human alopecia areata and the drug's therapeutic action.
10 citations
,
March 2014 in “Scandinavian journal of clinical and laboratory investigation” This study found that MDA-modified DNA may contribute to immune responses in alopecia areata patients by creating neo-epitopes, providing new insights into the condition's immunological mechanisms.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
14 citations
,
October 2003 in “Annals of Oncology” In this study, the researchers observed that the severity of capecitabine-induced hand-foot syndrome in advanced gastric cancer patients was not linked to the IVS14+1G→A mutation in the DPYD gene.
June 2026 in “Journal of Investigative Dermatology” This study reported that the anti-γc antibody hC2 restored hair follicle homeostasis and suppressed hair loss in an AA-like mouse model by inhibiting autoreactive T-cell activity, suggesting that hC2 may offer a safer and more effective treatment for alopecia areata compared to current Jak inhibitors.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
February 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This quiz presents educational questions about alopecia areata, including its diagnosis and underlying mechanisms, but reports no new clinical outcomes.
This study found that 49% of female breast cancer patients treated with CDK4/6 inhibitors for at least three months developed alopecia, which significantly impacted their quality of life, with greater alopecia severity leading to worse emotional and functional well-being.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case study reports a rare instance of RC11 associated with precocious puberty, severe hyperandrogenism, insulin resistance, and type 2 diabetes, suggesting a possible link to 11q-syndrome.
1 citations
,
January 2015 in “Case reports in endocrinology” This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
56 citations
,
December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
1 citations
,
November 2016 in “Frontiers in neurology” In this case report, a patient with Cronkhite-Canada syndrome also had mononeuritis multiplex, and the authors suggest that an autoimmune mechanism may be involved based on steroid responsiveness and electrophysiological findings.
93 citations
,
March 2017 in “Molecular Plant” This study concluded that CNGC14 is a calcium-permeable channel crucial for polarized tip growth in Arabidopsis root hairs, but other channels may also influence the observed calcium influx.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
1 citations
,
November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” This study aims to determine if an integrated early childhood development package can reduce developmental delays among two-year-old children in public health centers in Pakistan.
9 citations
,
April 2016 in “Australasian journal of dermatology” This study suggests that adding imiquimod to diphenylcyclopropenone treatment significantly improves outcomes for alopecia areata patients who initially do not respond to diphenylcyclopropenone alone.
April 2023 in “Journal of Investigative Dermatology” This study found that ALRN-6924 effectively protected human hair follicles from cyclophosphamide-induced damage in an ex vivo setting, suggesting it may reduce both acute and permanent chemotherapy-induced alopecia.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
In this laboratory study, researchers developed and tested two in vitro models to simulate atopic dermatitis using HaCaT cells, finding that azithromycin displayed epithelial-strengthening properties in one model, potentially offering insights for future research on skin disease interventions.
9 citations
,
October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
4 citations
,
November 2021 in “Journal of Clinical Medicine” This study found no significant differences in certain proinflammatory protein levels between patients with alopecia areata and healthy controls but noted a potential association between disease severity and increased atherosclerosis risk.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
April 2024 in “JMR. Journal of molecular recognition/Journal of molecular recognition” This study found that hydrophilic carbon dots (Lys-CA-CDs) induced bovine serum albumin to form more wormlike fibrils, while inhibiting hen egg white lysozyme from forming hair-like fibrils.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.