243 citations
,
October 2003 in “Developmental biology” This study identified ectodin as a novel BMP inhibitor that modulates BMP signaling in ectodermal development by interacting with SHH and FGF pathways.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
9 citations
,
March 1989 in “The BMJ” Adding diltiazem to a beta blocker can cause dangerously slow heart rates.
55 citations
,
July 1983 in “Journal of the American Academy of Dermatology” This case study of three siblings highlights the importance of recognizing dermatologic signs—alopecia and periorificial dermatitis—for early diagnosis and treatment of biotin-responsive multiple carboxylase deficiency.
15 citations
,
October 2014 in “Journal of Investigative Dermatology” This review discusses the development of targeted therapies for basal cell carcinoma that interfere with Hedgehog signaling and reports no new research findings.
1 citations
,
January 2023 in “Annals of Dermatology” The BASP classification helps predict patient behavior and improve treatment for hair loss.
3 citations
,
July 2015 in “Australasian Journal of Dermatology” This letter discusses a case of iododerma in pregnancy linked to iodinated multivitamin use, but reports no new clinical findings.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
4 citations
,
August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
January 2026 in “Regenerative Biomaterials” This study synthesized and compared single-ion doped silicate bioactive glass nanoparticles for tissue repair, finding that BSr and BCe were most effective in accelerating wound healing and restoring vasculature, with BSr particularly reducing inflammation and BCo enhancing hair follicle regeneration but with limited biosafety window.
1 citations
,
June 2019 in “Journal of Cutaneous Immunology and Allergy” This report describes two cases where topical squaric acid dibutylester application in alopecia totalis patients led to severe pustular lesions, necessitating systemic prednisolone treatment.
23 citations
,
July 2012 in “Calcified Tissue International” In this study, a single dose of PTH–CBD produced a sustained increase in bone mineral density for up to a year in mice, indicating its potential as an osteoporosis treatment.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
99 citations
,
August 1998 in “Pain” This study found that blocking GABA(A) receptors in cat dorsal horn neurons increased evoked activity and background discharge, highlighting differences in inhibitory control systems compared to glycine receptors.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
February 2026 in “Frontiers in Medicine” In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
43 citations
,
September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
April 2025 in “European Journal of Pharmaceutics and Biopharmaceutics” This study developed and tested Bicalutamide-loaded lipid vesicles in dissolving microarray patches for topical application, finding that they effectively deliver Bicalutamide through murine skin while maintaining a favorable safety profile, suggesting potential to improve treatments for androgenetic alopecia.
February 2026 in “Pediatric Dermatology” February 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This document promotes a 10% discount code for Beauty by Earth's natural skincare products, providing details on applying the discount and highlighting the benefits of their eco-friendly offerings, with no new research findings reported.
49 citations
,
January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
1 citations
,
July 2025 in “Frontiers in Endocrinology” This review discusses the dual role of apoptotic vesicles in disease and therapy, emphasizing their potential in cancer treatment and tissue regeneration, but reports no new results.
31 citations
,
April 2016 in “Journal of the American Academy of Dermatology” Oral dexamethasone may help regrow hair in adults with alopecia totalis and universalis.
6 citations
,
February 2025 in “Scientific Reports” This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
In this study, researchers found that during late pregnancy, neuroactive steroid fluctuations increase the number of extrasynaptic GABAA receptors in rat hippocampal cells.