Results 71 to 80 of about 10,255 (168)
Computational and Systems Oncology, Volume 6, Issue 1, December 2026.Sex‐stratified analyses of the TCGA and CGGA cohorts have identified promoter‐proximal TACSTD2 CpG sites where methylation shows opposite survival associations in males and females, is independent of copy number, and correlates with TACSTD2 expression.
Tahreem Fatima
wiley +1 more source
Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
Case Reports in Nephrology, 2013 Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki +3 more
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The Enteric Nervous System: An Integrative Hub From Development to Systemic Physiology
Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 10, Page 977-992, December 2026.Unlike a static hardwired circuit, the ENS continuously remodels its transcriptional programs and synaptic connectivity in response to three ecological forces: microbial metabolites, immune cell signals and enteroendocrine cues. ABSTRACT The enteric nervous system (ENS) constitutes the largest and most functionally autonomous subdivision of the ...
Mario Cuchillo‐Hilario +3 more
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An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15
Case Reports in NephrologyBarakat syndrome, also known as HDR syndrome (HDRS), is an autosomal dominant genetic disease classically characterized by hypoparathyroidism (H), deafness (D), and renal disease (R).
Matthew Satariano +3 more
doaj +1 more source
Asthma: From Phenotypes to Endotypes—Beyond Type 2 Inflammation
Respirology, Volume 31, Issue 11, Page 1077-1090, November 2026.ABSTRACT Asthma is a heterogeneous syndrome featuring variable pathophysiology, clinical presentation and treatment response. This review examines a comprehensive endotype‐phenotype framework for asthma assessment with an emphasis on characteristics beyond T2 inflammatory status alone.
Mario Fernando, Gregory G. King
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A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. [PDF]
CEN Case Rep, 2021 Ikeuchi M +8 more
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When Small Cells Matter: Diagnosing Bladder Small Cell Carcinoma on Urine Cytology
Cytopathology, Volume 37, Issue 6, Page 667-672, November 2026.Small cell carcinoma of the bladder is rare, aggressive and diagnostically challenging on urine cytology. We report a case detected in urine and confirmed by cell block immunohistochemistry, highlighting the importance of careful assessment and limitations of the Paris System.
Haley Corbin +3 more
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Additional file 1: of Juvenile idiopathic arthritis associated with a mutation in GATA3
, 2019 Figure S1. Autoimmune arthritis in the proband. a The pedigree for HDR disease, proband clinical diagnoses, and criteria met for psoriatic juvenile idiopathic arthritis (JIA). b The proband clinical course from diagnosis of psoriatic JIA at time 0 to 17â months post diagnosis. Absolute CD3+, CD8+, CD19+, and CD16&56+ cells per ÎźL values are shown.
Patrick, Anna +5 more
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PLOS Genetics, 2016 Patterns of somatic mutations in cancer genes provide information about their functional role in tumourigenesis, and thus indicate their potential for therapeutic exploitation. Yet, the classical distinction between oncogene and tumour suppressor may not always apply.
Barbara Mair +8 more
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Gynecologic Oncology ReportsObjective: To evaluate predictors of recurrence and the risk of progression to carcinoma in patients with dVIN. Methods: 36 self-identified White patients with dVIN from 2011 to 2022 were identified.
Jill N.T. Roberts +3 more
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