April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
September 2023 in “Research Square (Research Square)” This study describes the development of a prototype clinical expert system that uses a belief rule-based inference methodology to improve the risk stratification and diagnosis of polycystic ovary syndrome by addressing uncertainties in clinical data and domain knowledge.
3 citations
,
April 2020 in “PubMed” This study found that DEB-BACE combined with systemic chemotherapy was more effective than chemotherapy alone for unresectable lung squamous cell carcinoma, reducing side effects and improving survival rates.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
This review discusses recent advances in polydopamine-based biomaterials and their growing potential in personalized medicine, but reports no new experimental results; the authors highlight both opportunities and challenges for future applications.
2 citations
,
July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
3 citations
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April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
July 2024 in “Journal of Investigative Dermatology” This study suggests that macrophages, especially CD206+ subsets, play a key role in hair growth induced by squaric acid dibutyl ester, a therapy used for alopecia areata.
17 citations
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August 1979 in “Journal of The American Academy of Dermatology” This study found that a histochemical stain using 4-dimethyl-aminocinnamaldehyde effectively distinguishes between plucked anagen and telogen hairs by causing the root ends of anagen hairs to develop a red color.
4 citations
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September 2024 in “BMC Cancer” In this prospective phase II clinical trial, researchers are investigating whether adding dutasteride to combined androgen blockade can improve the response rate and clinical outcomes for patients with androgen receptor-positive recurrent or metastatic salivary duct carcinoma.
21 citations
,
December 2014 in “Clinics in dermatology” This review discusses squaric acid dibutylester's use, effects, and safety in treating alopecia areata, but reports no new clinical results.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
October 2020 in “Journal of the American Society of Nephrology” In this case study, drospirenone use masked the diagnosis of a rare form of congenital adrenal hyperplasia, suggesting a possible delay in detecting underlying endocrinopathies.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
55 citations
,
June 2007 in “Journal of Statistical Planning and Inference” This study introduces an extended approach to the Bonferroni procedure that accounts for correlations among endpoints, aiming to improve test power while maintaining strong control of the family-wise type I error rate in clinical trials.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
2 citations
,
June 2019 in “International Journal of Dermatology” This study found that while a modified BASP classification for pattern hair loss could classify previously unrecognized types, it was less accurate and harder to use than the existing BASP classification.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
January 2023 in “Endocrine Journal” This review discusses the challenges in optimizing glucocorticoid treatment for classic 21-hydroxylase deficiency, emphasizing individualized care and the need for comprehensive management, but presents no new findings.
13 citations
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May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
12 citations
,
March 2021 in “Patient Preference and Adherence” This study found that patients, oncologists, and payers prioritize a significant improvement in efficacy to justify the added risks and costs when considering CDK4/6 inhibitors combined with endocrine therapy for early-stage breast cancer.
2 citations
,
August 2020 in “JCRPE” This case report describes a girl with Denys-Drash syndrome misdiagnosed with hyperandrogenism due to biotin interference in immunoassays, highlighting the need for awareness of laboratory result discrepancies.
1 citations
,
May 2017 in “Journal of Clinical Oncology” This study found that applying BPM 31543 twice daily was safe, well-tolerated, and showed signs of reducing chemotherapy-induced alopecia in women receiving taxane-based chemotherapy.
11 citations
,
December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
4 citations
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March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
July 2025 in “Dermatology and Therapy” This study found that patients with alopecia areata showing low treatment burden responded better to baricitinib compared to those with higher previous systemic treatment exposure.
2 citations
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November 2022 in “Biosensors” This study introduced a new spectrofluorometric method using a synthesized organic fluorophore to effectively analyze darolutamide and thalidomide in pharmaceutical preparations and biofluids.