Systemic interferon type I and B cell responses are impaired in autoimmune polyendocrine syndrome type 1
Sign Up to like & getrecommendations! Published in 2023 at "FEBS Letters"
DOI: 10.1002/1873-3468.14625
Abstract: Autoimmune polyendocrine syndrome type I (APS‐1) is caused by mutations in the autoimmune regulator (AIRE) gene and characterised clinically by multiple autoimmune manifestations and serologically by autoantibodies against tissue proteins and cytokines. We here hypothesised… read more here.
Keywords: syndrome type; cell; autoimmune polyendocrine; polyendocrine syndrome ... See more keywords
Severe Acute Respiratory Syndrome Type 2‐Causing Coronavirus: Variants and Preventive Strategies
Sign Up to like & getrecommendations! Published in 2022 at "Advanced Science"
DOI: 10.1002/advs.202104495
Abstract: COVID‐19 vaccines have constituted a substantial scientific leap in countering severe acute respiratory syndrome type 2‐causing coronavirus (SARS‐CoV‐2), and worldwide implementation of vaccination programs has significantly contributed to the global pandemic effort by saving many… read more here.
Keywords: syndrome type; severe acute; acute respiratory; causing coronavirus ... See more keywords
Severe Acute Respiratory Syndrome Type 2‐Causing Coronavirus: Variants and Preventive Strategies (Adv. Sci. 11/2022)
Sign Up to like & getrecommendations! Published in 2022 at "Advanced Science"
DOI: 10.1002/advs.202270066
Abstract: Covid‐19 Variants and Prevention Preventive strategies such as vaccines, repurposed drugs and physical‐materials science based scenarios to create vectors interacting with SARS‐CoV‐2 to tackle the spread of the virus and its various mutations have been… read more here.
Keywords: syndrome type; type causing; acute respiratory; respiratory syndrome ... See more keywords
The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Cytopathology"
DOI: 10.1002/cncy.22663
Abstract: Trichorhinophalangeal syndrome type 1 (TRPS1) is a novel immunohistochemical marker with excellent performance in distinguishing breast carcinoma from other cancers in surgical specimens. The aim of this study was to evaluate the diagnostic utility of… read more here.
Keywords: syndrome type; trichorhinophalangeal syndrome; breast carcinoma; cytology ... See more keywords
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1128
Abstract: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. read more here.
Keywords: identification six; syndrome type; waardenburg syndrome; six novel ... See more keywords
Prenatal Characterization of Houge–Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70129
Abstract: Houge–Janssens syndrome type 2 (HJS2, OMIM 616362) is a rare neurodevelopmental disorder caused by pathogenic variants in PPP2R1A, typically characterized postnatally by hypotonia, developmental delay, intellectual disability, and distinctive craniofacial features. read more here.
Keywords: houge janssens; syndrome type; prenatal characterization; janssens syndrome ... See more keywords
Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Neuroradiology"
DOI: 10.1007/s00062-021-01007-3
Abstract: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disease characterized by generalized arterial tortuosity with aneurysms and dissections in association with craniofacial and skeletal manifestations [1, 2]. Typical LDS patients have hypertelorism, bifid… read more here.
Keywords: patient loeys; management davf; davf patient; syndrome type ... See more keywords
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02324-w
Abstract: Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from retinitis pigmentosa (RP), occasionally accompanied by an altered vestibular… read more here.
Keywords: genetics; syndrome type; therapeutic developments; usher syndrome ... See more keywords
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-024-01842-2
Abstract: Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data… read more here.
Keywords: griscelli syndrome; syndrome type; type comprehensive; comprehensive analysis ... See more keywords
Nutritional Effects of Zinc on Metabolic Syndrome and Type 2 Diabetes: Mechanisms and Main Findings in Human Studies
Sign Up to like & getrecommendations! Published in 2018 at "Biological Trace Element Research"
DOI: 10.1007/s12011-018-1611-8
Abstract: Zinc (Zn) plays crucial roles in mammalian metabolism. There is increasing interest about the potential beneficial effects of Zn on the prevention or treatment of non-communicable diseases. This review critically analyzes the information related to… read more here.
Keywords: nutritional effects; syndrome type; type diabetes; effects zinc ... See more keywords
BI-1 ameliorates myocardial injury by activating the mitochondrial unfolded protein response and FUNDC1-related mitophagy in cardiorenal syndrome type 3.
Sign Up to like & getrecommendations! Published in 2021 at "Cellular signalling"
DOI: 10.1016/j.cellsig.2021.110218
Abstract: It has been suggested that mitochondrial dysfunction underlies the myocardial injury seen following cardiorenal syndrome type 3 (CRS-3). Both mitophagy and the mitochondrial unfolded protein response (UPRmt) are protective programs that preserve mitochondrial homeostasis. Here,… read more here.
Keywords: cardiorenal syndrome; myocardial injury; injury; fundc1 ... See more keywords