A5042395620- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Calcium signaling and nucleotide metabolism
- Congenital Anomalies and Fetal Surgery
- Ion Channels and Receptors
- Piperaceae Chemical and Biological Studies
- Genomics and Chromatin Dynamics
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Animal Genetics and Reproduction
- Chromosomal and Genetic Variations
- Axon Guidance and Neuronal Signaling
- Developmental Biology and Gene Regulation
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Silk-based biomaterials and applications
- CRISPR and Genetic Engineering
- Reproductive Health and Technologies
- Hemoglobinopathies and Related Disorders
- Nerve injury and regeneration
- Methemoglobinemia and Tumor Lysis Syndrome
- Biomedical Research and Pathophysiology
- Renal and related cancers
- Parvovirus B19 Infection Studies
Hadassah Medical Center
2013-2024
Hebrew University of Jerusalem
2002-2023
Hudson Institute
2018
John Wiley & Sons (United Kingdom)
2018
Sheba Medical Center
2018
Tel Aviv Sourasky Medical Center
2018
Shaare Zedek Medical Center
2018
Meir Medical Center
2018
Kaplan Medical Center
2018
Carmel Medical Center
2018
Abstract Extracellular matrix (ECM) proteins play an important role in early cortical development, specifically the formation of neural connections and controlling cyto-architecture central nervous system. F-spondin Mindin are a family matrix-attached adhesion molecules that share structural similarities overlapping domains expression. Genes for both contain thrombospondin type I repeat(s) at C terminus FS1-FS2 (spondin) domain. Both vertebrate zebrafish mindins expressed on embryonic floor...
The mucolipin (TRPML) subfamily of transient receptor potential (TRP) cation channels consists three members that play various roles in the regulation membrane and protein sorting along endo-lysosomal pathways. Loss-of-function mutations TRPML1 cause neurodegenerative lysosomal storage disorder, mucolipidosis type IV (MLIV), whereas a gain-of-function mutation TRPML3 is principally implicated hearing-impaired abnormally pigmented varitint-waddler mouse. Currently, TRPML2 not any pathological...
<h3>Background</h3> Agenesis of corpus callosum has been associated with several defects the mitochondrial respiratory chain and citric acid cycle. We now report results biochemical molecular studies a patient severe neurodevelopmental disease manifesting by agenesis optic nerve hypoplasia. <h3>Methods results</h3> A was suspected in this based on prominent excretion 2-hydroxyglutaric Krebs cycle intermediates urine finding increased reactive oxygen species content decreased membrane...
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a resulting from recombination low copy repeat blocks LCR22‐A and LCR22‐D. Loss TBX1 gene considered important cause phenotype. A limited number with smaller, overlapping deletions distal to TBX 1 locus been described in literature. In these patients, CRKL deleted. Haploinsufficiency this has also implicated pathogenesis syndrome. To distinguish (comprising LCR22‐B LCR22‐D region) more (located...
ABSTRACT CHox-cad is a chicken homeobox gene whose homeo domain homologous to the Drosophila caudal and murine Cdx1 genes. Based on sequence analysis of 2.5 kb cDNA clone, we deduced that primary translation product consists 248 amino acids. Comparison between genomic clones revealed presence an intron within homeodomain acids 44 45. The onset transcription correlates temporarily with beginning gastrulation. During primitive streak stages exhibits caudally localized pattern expression...
Abstract Lysosomal storage disorders (LSDs) constitute a diverse group of inherited diseases that result from lysosomal compounds occurring in direct consequence to deficiencies proteins implicated proper function. Pathology the LSD mucolipidosis type IV (MLIV), is characterized by lipids together with water‐soluble materials cells every tissue and organ affected patients. Mutations mucolipin 1 (TRPML1) protein cause MLIV TRPML1 has also been shown interact two its paralogous proteins, 2...
The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. disease found relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles this population [Bargal et al., 2000]. In report we complete mutation analysis Jewish and non-Jewish patients whose DNA were available us. Four novel identified severely affected patients: missense, T232P F465L; nonsense, R322X; an 11-bp insertion...
The mucolipin (TRPML) ion channel proteins represent a distinct subfamily of within the transient receptor potential (TRP) superfamily cation channels. Mucolipin 1, 2, and 3 (TRPML1, -2, -3, respectively) are that share high sequence homology with each other in transmembrane domain TRPs. Mutations TRPML1 protein implicated mucolipidosis type IV, whereas mutations TRPML3 found varitint-waddler mouse. properties wild TRPML2 not well known. Here we show functional expression human (h-TRPML2)....
OBJECTIVE: To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants diverse fetal phenotypes. METHODS: We retrospectively examined analyses of amniocenteses performed nationwide as a result (structural defects, growth restriction, polyhydramnios) between January 2013 September 2017. The rate abnormal findings was compared different phenotypes previously described control population 15,225 normal...
To evaluate the yield and utility of routine use chromosomal microarray analysis (CMA) for prenatal genetic diagnosis in a large cohort pregnancies with normal ultrasound (US) at time testing, compared abnormal US findings.We reviewed all CMA results our center between November 2013 December 2018. The prevalence different testing ('low-risk pregnancies'), was that findings ('high-risk pregnancies'). Medical records were searched order to subsequent follow-up outcome clinically relevant...
F-spondin, an extracellular matrix protein, is present in peripheral nerve during embryonic development, but its amount diminishes by birth. Axotomy of adult rat sciatic nerve, however, causes a massive upregulation both F-spondin mRNA and protein distal to the lesion. stump axotomized promotes neurite outgrowth sensory neurons, as revealed neutralization with F-spondin-specific antibodies. Thus, likely play role promoting axonal regeneration after injury.
Traditionally, amniocentesis is performed between 17 and 23 weeks of gestation. This enables decisions regarding the course pregnancy to be made before viability. Less frequently, in third trimester. Advanced genomic technologies such as chromosomal microarray analysis (CMA) provide more detailed information about fetus compared with traditional G-banded analysis. The aim this study was assess indications for safety late amniocentesis, genetic-test results (especially context CMA technology)...
Abstract Clinical laboratory diagnostic evaluation of the genomes children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations, complex (CCRs). We describe an infant a clinical diagnosis Cornelia de Lange syndrome (CdLS) in whom chromosome analysis revealed novo translocation, 46,XY,t(5;7;6)(q11.2;q32;q13)dn. Subsequent molecular characterization by...
ABSTRACT CdxA is a homeobox gene of the caudal type that was previously shown to be expressed in endoderm-derived gut epithelium during early embryogenesis. Expression CDXA protein studied intestine morphogenesis from stage 11 (13 somites) adulthood chicken. The can detected all stages closure, 5 days incubation, and mainly localized intestinal portals, region where splanchnopleure undergoing closure. In this region, which represents transition between open closed gut, restricted...
ABSTRACT The chicken homeobox containing gene, CdxA (formerly CHox-cad), was previously shown to be expressed during gastrulation. Localization of transcripts by in situ hybridization tissue sections revealed that, gastrulation, expression this gene exhibits a posterior localization along the primitive streak. are localized epiblast cells vicinity streak, streak itself and definitive endoderm as it replaces hypoblast. In order study greater detail pattern we full-length protein fusion E....
Interstitial deletions of the long arm chromosome 6 are rare. Clinically, this is a recognizable microdeletion syndrome associated with intellectual disability (ID), acquired microcephaly, typical dysmorphic features, structural anomalies brain, and nonspecific multiple organ anomalies. Most reported cases have cytogenetically visible interstitial or subtelomeric microdeletions. We report on boy global developmental delay, distinct dysgenesis corpus callosum, limb anomalies, genital...