1 citations
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September 2025 in “The Oncologist” This review discusses the management of adverse events associated with sacituzumab govitecan use in real-world settings and provides no new clinical results; it emphasizes practical strategies for clinicians treating breast cancer patients.
1 citations
,
July 2023 in “Al-Azhar Medical Journal” This study observed a significant association between antigliadin antibodies (IgA and IgG) and alopecia areata severity, suggesting that serological tests could help diagnose subclinical celiac disease in these patients, with IgA and IgG showing 100% sensitivity and specificity at specific cutoff points.
9 citations
,
April 2022 in “Cell Communication and Signaling” This study found that the S100A4/NMIIA axis contributes to glioblastoma progression by recruiting and promoting migration of GBM cells along blood vessels, correlating with worse patient outcomes.
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.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
September 2021 in “Pediatrics in review” This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.
1 citations
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January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
June 2022 in “Mayo Clinic Proceedings” This case report describes a 69-year-old man diagnosed with stage 3 acute kidney injury secondary to new IgG kappa light chain multiple myeloma, where treatment with bortezomib-based therapy showed potential for kidney function salvage.
67 citations
,
December 2009 in “Stem Cells” This study found that β-catenin signaling increases in newly born glial cells in the cortex after traumatic brain injury in mice, suggesting potential targets for enhancing recovery through the Wnt/β-catenin pathway.
22 citations
,
April 2023 in “The Journal of Cell Biology” In this study, researchers found that coordinated intercellular Ca2+ signaling among basal stem cells in mice is crucial for cell cycle progression and tissue-wide communication during epidermal regeneration.
24 citations
,
December 2013 in “Archives of Dermatological Research”
This section presents 70 multiple choice questions designed for haematology specialist trainees, covering complex clinical cases and their likely diagnoses, adverse events, and management advice.
1 citations
,
November 2002 in “Journal of dermatology” This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.
2 citations
,
June 2025 in “Preprints.org” This review highlights the potential of amphiregulin as a therapeutic target, noting its role in both fibrotic and malignant diseases, and discusses promising early findings but reports no new clinical results.
25 citations
,
January 2021 in “Journal of drugs in dermatology” This review reports that sonidegib and vismodegib, two Hedgehog inhibitors used for treating advanced basal cell carcinoma, have similar efficacy and safety profiles, but differ in pharmacokinetics, with sonidegib achieving peak concentration more rapidly and reaching steady state later than vismodegib.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
January 2024 in “Wiadomości Lekarskie” In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.
2 citations
,
March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
This article presents a collection of 70 multiple choice questions designed to assist haematology and core medical trainees with diagnostic and management skills, but it provides no new clinical findings.
December 2021 in “Research Square (Research Square)” In this study, high expression of S100A4 in glioblastoma was associated with worse patient survival and promoted tumor progression by enhancing pro-tumorigenic vascular functions.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
9 citations
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February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
4 citations
,
October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study emphasizes the genetic component of central centrifugal cicatricial alopecia, highlighting an atypical case involving an adolescent male within an African-American family.
7 citations
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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.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.