Search
Search Results
-
Genetic predisposition study of heart failure and its association with cardiomyopathy
Heart failure (HF) is a clinical condition distinguished by structural and functional defects in the myocardium, which genetic and environmental...
-
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
BackgroundThe aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
...
-
A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing
Kallmann syndrome (KS) is a rare genetic disorder that is characterized by idiopathic hypogonadotropic hypogonadism associated with anosmia. Genetic...
-
-
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
BackgroundOcular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea,...
-
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children
BackgroundThe GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and...
-
In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population
Background6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is an autosomal recessive disorder caused by PTS gene mutations. The aim of this...
-
Recurrent YAP1::MAML2 fusions in “nodular necrotizing” variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases
Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare soft tissue tumor with a predilection for the distal extremities and a tendency for local...
-
Myeloid/lymphoid neoplasms with FLT3 rearrangement
Myeloid/lymphoid neoplasms (M/LN) with 13q12/ FLT3 rearrangement have been suggested as candidates for possible inclusion in the World Health...
-
Pseudosarcomatous myofibroblastic proliferations of the urinary bladder are neoplasms characterized by recurrent FN1–ALK fusions
Pseudosarcomatous myofibroblastic proliferation is a descriptive term that designates a group of clinically indolent genitourinary lesions that most...
-
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
BackgroundPathogenic missense variants in the dystrophin ( DMD ) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of...
-
Towards new horizons: characterization, classification and implications of the tumour antigenic repertoire
Immune-checkpoint inhibition provides an unmatched level of durable clinical efficacy in various malignancies. Such therapies promote the activation...
-
Modulation of IRAK enzymes as a therapeutic strategy against SARS-CoV-2 induced cytokine storm
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of the current pandemic coronavirus disease 2019 (COVID-19). Dysregulated...
-
Alternative splicing and related RNA binding proteins in human health and disease
Alternative splicing (AS) serves as a pivotal mechanism in transcriptional regulation, engendering transcript diversity, and modifications in protein...
-
The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer
PurposeMutations in RAD51D are associated with a predisposition to primary ovarian, fallopian tube, and peritoneal carcinoma. Our study aims to...
-
Reliability analysis of exonic-breakpoint fusions identified by DNA sequencing for predicting the efficacy of targeted therapy in non-small cell lung cancer
BackgroundDiverse genomic breakpoints of fusions that localize to intronic, exonic, or intergenic regions have been identified by DNA next-generation...
-
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more...
-
An international working group consensus report for the prioritization of molecular biomarkers for Ewing sarcoma
The advent of dose intensified interval compressed therapy has improved event-free survival for patients with localized Ewing sarcoma (EwS) to 78% at...
-
Immunohistochemical loss of enhancer of Zeste Homolog 2 (EZH2) protein expression correlates with EZH2 alterations and portends a worse outcome in myelodysplastic syndromes
EZH2 coding mutation ( EZH2 MUT ), resulting in loss-of-function, is an independent predictor of overall survival in MDS. EZH2 function can be altered...
-
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients...