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Article ; Online: Pregnancy with newer generation aortic On-X mechanical valve.

Rottenstreich, Amihai / Kalish, Yosef / Ta-Shma, Asaf / Levin, Gabriel / Rosenbloom, Joshua I / Roth, Batia

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology

2021 Volume 41, Issue 6, Page(s) 986–987

MeSH term(s)	Anticoagulants/administration & dosage ; Anticoagulants/therapeutic use ; Aortic Valve ; Female ; Heart Valve Prosthesis ; Heparin, Low-Molecular-Weight/administration & dosage ; Heparin, Low-Molecular-Weight/therapeutic use ; Humans ; Perinatal Care ; Pregnancy ; Pregnancy Complications, Cardiovascular/drug therapy ; Pregnancy, High-Risk/blood ; Prenatal Care ; Young Adult
Chemical Substances	Anticoagulants ; Heparin, Low-Molecular-Weight
Language	English
Publishing date	2021-01-12
Publishing country	England
Document type	Case Reports
ZDB-ID	604639-3
ISSN	1364-6893 ; 0144-3615
ISSN (online)	1364-6893
ISSN	0144-3615
DOI	10.1080/01443615.2020.1839872
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Zs.B 2461: Show issues

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Article: [EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

Ta-Shma, Asaf / Edvardson, Simon / Elpeleg, Orly / Stepensky, Polina

Harefuah

2018 Volume 157, Issue 3, Page(s) 188–191

Abstract: Introduction: Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical ... ...

Abstract	Introduction: Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical practice. The Department of Genetics at Hadassah was the first in Israel to introduce exome analysis as a robust diagnostic tool into the pediatric departments. Till now 2600 exomes were analyzed at Hadassah, 850 of them in 2016 alone. Exome analysis is cheap and fast, enabling precise and non-invasive diagnosis for a vast array of genetic disorders and congenital malformations. The unique composition of the population which the hospital serves (marked by a high rate of consanguinity) enabled reaching diagnosis in 65% of the cases, twice the rate in medical centers worldwide. The results of this analysis enable genetic counseling to patients' families and prevention of serious disorders. Moreover, the results contribute to the understanding of the biological basis of newly identified disorders and in certain cases assist in the management of the patients. The major limitation of exome analysis is the multitude of identified variants which exist in any individual and which challenge our ability to pick the disease-causing variant. In the case of a disease-causing variant in a new gene, experimental proof is required to validate the causality of the variant; occasionally, an incidental finding with possible clinical significance is identified, raising serious ethical concerns. In this article, we will review the use of this technology through the experience of three pediatric departments at Hadassah.
MeSH term(s)	Child ; Exome ; Genetic Counseling ; Genomics ; Human Genome Project ; Humans ; Israel ; Pediatrics ; Sequence Analysis, DNA
Language	Hebrew
Publishing date	2018-03-23
Publishing country	Israel
Document type	Journal Article ; Review
ZDB-ID	953872-0
ISSN	0017-7768
ISSN	0017-7768
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Zs.B 291: Show issues

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Article ; Online: Grandparental genotyping enhances exome variant interpretation.

Daum, Hagit / Mor-Shaked, Hagar / Ta-Shma, Asaf / Shaag, Avraham / Silverstein, Shira / Shohat, Mordechai / Elpeleg, Orly / Meiner, Vardiella / Harel, Tamar

American journal of medical genetics. Part A

2020 Volume 182, Issue 4, Page(s) 689–696

Abstract: Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband-only sequencing, mainly due to the rapid identification of de novo disease-causing variants. However, ...

Abstract	Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband-only sequencing, mainly due to the rapid identification of de novo disease-causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including mosaicism in the parent, incomplete penetrance, imprinting, or skewed X-inactivation. We report three probands, in which a pathogenic or likely pathogenic variant was identified upon exome sequencing, yet was inherited from an unaffected parent. Segregation of the variants (in NOTCH1, PHF6, and SOX10) in the grandparent generation revealed that the variant was de novo in each case. Additionally, one proband had skewed X-inactivation. We discuss the possible genetic mechanism in each case, and urge caution in data interpretation of exome sequencing data. We illustrate the utility of expanding segregation studies to the grandparent generation and demonstrate the impact on exome interpretation strategies, by showing that objective genotype data can overcome subjective parental report of lack of symptoms.
MeSH term(s)	Adult ; Child ; Epilepsy/genetics ; Epilepsy/pathology ; Exome/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Grandparents ; Humans ; Hypoplastic Left Heart Syndrome/genetics ; Hypoplastic Left Heart Syndrome/pathology ; Infant, Newborn ; Male ; Mosaicism ; Mutation ; Parents ; Receptor, Notch1/genetics ; Repressor Proteins/genetics ; SOXE Transcription Factors/genetics ; Whole Exome Sequencing
Chemical Substances	NOTCH1 protein, human ; PHF6 protein, human ; Receptor, Notch1 ; Repressor Proteins ; SOX10 protein, human ; SOXE Transcription Factors
Language	English
Publishing date	2020-02-06
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61511
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Article: Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?

Perles, Zeev / Ishay, Yuval / Nir, Amiram / Gavri, Sagui / Golender, Julius / Ta-Shma, Asaf / Abu-Zahira, Ibrahim / Natsheh, Juma / Elchalal, Uriel / Mevorach, Dror / Rein, Azaria Jjt

The Israel Medical Association journal : IMAJ

2020 Volume 11, Issue 22, Page(s) 711–716

Abstract: Background: Fetal complete atrioventricular block (CAVB) is usually autoimmune mediated. The risk of developing CAVB is 2% to 3% in anti-Ro/SS-A seropositive pregnancies and it increases 10 times after previous CAVB in siblings. Despite being a rare ... ...

Abstract	Background: Fetal complete atrioventricular block (CAVB) is usually autoimmune mediated. The risk of developing CAVB is 2% to 3% in anti-Ro/SS-A seropositive pregnancies and it increases 10 times after previous CAVB in siblings. Despite being a rare complication, CAVB carries a 20% mortality rate and substantial morbidity, as about 65% of newborns will eventually need life-long pacing. Once found, fetal CAVB is almost always irreversible, despite aggressive immunotherapy. This poor outcome prompted some research groups to address this situation. All groups followed anti-Ro/SS-A seropositive pregnancies on a weekly basis during the second trimester of pregnancy and tried to detect first degree atrioventricular block (AVB) using accurate echocardiographic tools, assuming they may characterize the initiation of the immune damage to the A-V conduction system, at which point the process might still be reversible. Some of the groups treated fetuses with first degree AVB with maternal oral fluorinated steroids. We summarized the results of all groups, including our group. We describe a case of a fetus that developed CAVB 6 days after normal sinus rhythm (NSR), who under aggressive dexamethasone therapy gradually reverted to NSR. This fetus had a previous sibling with CAVB. We assumed the immune damage to the conduction system in this small group of fetuses with a previous CAVB sibling may have occurred more quickly than usual. We therefore recommend a twice-weekly follow-up with these fetuses.
MeSH term(s)	Adult ; Atrioventricular Block/diagnosis ; Atrioventricular Block/drug therapy ; Atrioventricular Block/immunology ; Dexamethasone/administration & dosage ; Female ; Fetal Diseases/diagnosis ; Fetal Diseases/drug therapy ; Fetal Diseases/immunology ; Glucocorticoids/administration & dosage ; Humans ; Infant, Newborn ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis/methods ; Treatment Outcome
Chemical Substances	Glucocorticoids ; Dexamethasone (7S5I7G3JQL)
Language	English
Publishing date	2020-11-29
Publishing country	Israel
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2008291-5
ISSN	1565-1088 ; 0021-2180
ISSN	1565-1088 ; 0021-2180
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Zs.A 5470: Show issues

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Article ; Online: Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

Pagnamenta, Alistair T / Jackson, Adam / Perveen, Rahat / Beaman, Glenda / Petts, Gemma / Gupta, Asheeta / Hyder, Zerin / Chung, Brian Hon-Yin / Kan, Anita Sik-Yau / Cheung, Ka Wang / Kerstjens-Frederikse, Wilhelmina S / Abbott, Kristin M / Elpeleg, Orly / Taylor, Jenny C / Banka, Siddharth / Ta-Shma, Asaf

Clinical genetics

2021 Volume 101, Issue 1, Page(s) 127–133

Abstract: Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five ...

Abstract	Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Variants included one multi-exon deletion, four nonsense/frameshifts, two splicing changes and one missense change. Together with the published cases, analysis of clinical data revealed ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients. Three pregnancies were terminated on detection of severe congenital anomalies. Six patients died between the ages of 6 weeks and 5 years. Using a range of stringencies, carrier frequency for SHDRA was estimated at 0.0007-0.007 across ancestries. In conclusion, this study confirms the genetic basis of SHDRA, expands its known mutational spectrum and clarifies its clinical features. We demonstrate that SHDRA is a severe condition associated with substantial mortality in early childhood and characterised by congenital cardiac malformations with a variable renal phenotype.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Amino Acid Substitution ; Family ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heterozygote ; Humans ; Kidney Diseases/diagnosis ; Kidney Diseases/genetics ; Membrane Proteins/genetics ; Phenotype ; Truncus Arteriosus/abnormalities
Chemical Substances	Membrane Proteins ; transmembrane protein 260, human
Language	English
Publishing date	2021-10-11
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14071
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Zs.A 413: Show issues

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Article ; Online: Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Abu-Libdeh, Bassam / Douiev, Liza / Amro, Sarah / Shahrour, Maher / Ta-Shma, Asaf / Miller, Chaya / Elpeleg, Orly / Saada, Ann

European journal of human genetics : EJHG

2017 Volume 25, Issue 10, Page(s) 1142–1146

Abstract: We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was ... ...

Abstract	We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was performed then followed by Sanger confirmation, identified a K101N mutation in COX4I1, segregating with the disease. This nuclear gene encodes the common isoform of cytochrome c oxidase (COX) subunit 4 (COX 4-1), an integral regulatory part of COX (respiratory chain complex IV) the terminal electron acceptor of the mitochondrial respiratory chain. The patient's fibroblasts disclosed decreased COX activity, impaired ATP production, elevated ROS production, decreased expression of COX4I1 mRNA and undetectable (COX4) protein. COX activity and ATP production were restored by lentiviral transfection with the wild-type gene. Our results demonstrate the first human mutation in the COX4I1 gene linked to diseases and confirm its role in the pathogenesis. Thus COX4I1 mutations should be considered in any patient with features suggestive of this diagnosis.
MeSH term(s)	Adenosine Triphosphate/metabolism ; Body Height ; Body Weight ; Cells, Cultured ; Child ; Chromosome Breakage ; Diagnosis, Differential ; Electron Transport Complex IV/genetics ; Electron Transport Complex IV/metabolism ; Fanconi Anemia/diagnosis ; Fanconi Anemia/genetics ; Female ; Fibroblasts/metabolism ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation, Missense ; Reactive Oxygen Species/metabolism
Chemical Substances	Reactive Oxygen Species ; Adenosine Triphosphate (8L70Q75FXE) ; COX4I1 protein, human (EC 1.9.3.1) ; Electron Transport Complex IV (EC 1.9.3.1)
Language	English
Publishing date	2017-08-02
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2017.112
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Zs.A 3589: Show issues

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Article ; Online: A human laterality disorder associated with a homozygous WDR16 deletion.

Ta-Shma, Asaf / Perles, Zeev / Yaacov, Barak / Werner, Marion / Frumkin, Ayala / Rein, Azaria J J T / Elpeleg, Orly

European journal of human genetics : EJHG

2014 Volume 23, Issue 9, Page(s) 1262–1265

Abstract: The laterality in the embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid, which is maintained by the rotary movement of monocilia on the nodal cells. Defects manifest by abnormal formation and ... ...

Abstract	The laterality in the embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid, which is maintained by the rotary movement of monocilia on the nodal cells. Defects manifest by abnormal formation and arrangement of visceral organs. The genetic etiology of defects not associated with primary ciliary dyskinesia is largely unknown. In this study, we investigated the cause of situs anomalies, including heterotaxy syndrome and situs inversus totalis, in a consanguineous family. Whole-exome analysis revealed a homozygous deleterious deletion in the WDR16 gene, which segregated with the phenotype. WDR16 protein was previously proposed to play a role in cilia-related signal transduction processes; the rat Wdr16 protein was shown to be confined to cilia-possessing tissues and severe hydrocephalus was observed in the wdr16 gene knockdown zebrafish. The phenotype associated with the homozygous deletion in our patients suggests a role for WDR16 in human laterality patterning. Exome analysis is a valuable tool for molecular investigation even in cases of large deletions.
MeSH term(s)	Base Sequence ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Consanguinity ; Exome ; Female ; Heterotaxy Syndrome/genetics ; Heterotaxy Syndrome/metabolism ; Heterotaxy Syndrome/pathology ; Homozygote ; Humans ; Hydrocephalus/genetics ; Hydrocephalus/metabolism ; Hydrocephalus/pathology ; Hydrocephalus/veterinary ; Infant ; Levocardia/genetics ; Levocardia/metabolism ; Levocardia/pathology ; Molecular Sequence Data ; Phenotype ; Sequence Analysis, DNA ; Sequence Deletion
Chemical Substances	CFAP52 protein, human ; Carrier Proteins
Language	English
Publishing date	2014-12-03
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2014.265
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Zs.A 3589: Show issues

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Article ; Online: Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders.

Shamriz, Oded / Vilk, Shoshana Revel / Wolf, Dana G / Ta-Shma, Asaf / Averbuch, Diana / Weintraub, Michael / Stepensky, Polina

Clinical immunology (Orlando, Fla.)

2014 Volume 151, Issue 2, Page(s) 79–83

Abstract: X-linked lymphoproliferative disease (XLP) and IL-2-inducible T cell kinase (ITK) deficiency are rare immunodeficiencies with a spectrum of clinical manifestations. Although there are no official guidelines for allogeneic hematopoietic stem cell ... ...

Abstract	X-linked lymphoproliferative disease (XLP) and IL-2-inducible T cell kinase (ITK) deficiency are rare immunodeficiencies with a spectrum of clinical manifestations. Although there are no official guidelines for allogeneic hematopoietic stem cell transplantation (HSCT) in these patients, previous reports have shown that reduced intensity conditioning regimens provide successful engraftment with limited toxicity. Here, we report on three children with XLP and one with ITK deficiency, who underwent successful HSCT using a rituximab containing conditioning regimen, and review the current literature.
MeSH term(s)	Antibodies, Monoclonal, Murine-Derived/pharmacology ; Antineoplastic Agents/therapeutic use ; Bone Marrow Transplantation ; Child ; Child, Preschool ; Graft vs Host Disease/prevention & control ; Hematopoietic Stem Cell Transplantation/methods ; Herpesvirus 4, Human ; Humans ; Immunologic Factors/pharmacology ; Immunosuppressive Agents/therapeutic use ; Infant ; Lymphoproliferative Disorders/genetics ; Lymphoproliferative Disorders/therapy ; Lymphoproliferative Disorders/virology ; Male ; Protein-Tyrosine Kinases/deficiency ; Rituximab ; Transplantation Conditioning/methods
Chemical Substances	Antibodies, Monoclonal, Murine-Derived ; Antineoplastic Agents ; Immunologic Factors ; Immunosuppressive Agents ; Rituximab (4F4X42SYQ6) ; Protein-Tyrosine Kinases (EC 2.7.10.1) ; emt protein-tyrosine kinase (EC 2.7.10.2)
Language	English
Publishing date	2014-04
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2014.01.007
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Zs.A 880: Show issues

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Article ; Online: Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

Ta-Shma, Asaf / Khan, Tahir N / Vivante, Asaf / Willer, Jason R / Matak, Pavle / Jalas, Chaim / Pode-Shakked, Ben / Salem, Yishay / Anikster, Yair / Hildebrandt, Friedhelm / Katsanis, Nicholas / Elpeleg, Orly / Davis, Erica E

American journal of human genetics

2017 Volume 100, Issue 4, Page(s) 666–675

Abstract: Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous ... ...

Abstract	Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon. The mutations in both families map uniquely to the long isoform, raising the possibility of an isoform-specific disorder. Consistent with this notion, RT-PCR of lymphocyte cell lines from one of the kindreds showed reduced levels of only the long isoform, which could be ameliorated by emetine, suggesting that the mutation induces nonsense-mediated decay. Subsequent in vivo testing supported this hypothesis. First, either transient suppression or CRISPR/Cas9 genome editing of zebrafish tmem260 recapitulated key neurological phenotypes. Second, co-injection of morphants with the long human TMEM260 mRNA rescued CNS pathology, whereas the short isoform was significantly less efficient. Finally, immunocytochemical and biochemical studies showed preferential enrichment of the long TMEM260 isoform to the plasma membrane. Together, our data suggest that there is overall reduced, but not ablated, functionality of TMEM260 and that attenuation of the membrane-associated functions of this protein is a principal driver of pathology. These observations contribute to an appreciation of the roles of splice isoforms in genetic disorders and suggest that dissection of the functions of these transcripts will most likely inform pathomechanism.
MeSH term(s)	Abnormalities, Multiple/genetics ; Cardio-Renal Syndrome/genetics ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Proteins/genetics ; Neurodevelopmental Disorders/genetics ; Pedigree ; Point Mutation ; Protein Isoforms/genetics
Chemical Substances	Membrane Proteins ; Protein Isoforms ; transmembrane protein 260, human
Language	English
Publishing date	2017-03-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2017.02.007
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Article ; Online: Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Ta-Shma, Asaf / Pierri, Ciro Leonardo / Stepensky, Polina / Shaag, Avraham / Zenvirt, Shamir / Elpeleg, Orly / Rein, Azaria J J T

American journal of medical genetics. Part A

2013 Volume 161A, Issue 12, Page(s) 3115–3120

Abstract: Truncus arteriosus accounts for approximately 1% of congenital heart defects and the cause of isolated non-syndromic truncus arteriosus is largely unknown. In order to identify the underlying molecular defect in a consanguineous family with recurrent ... ...

Abstract	Truncus arteriosus accounts for approximately 1% of congenital heart defects and the cause of isolated non-syndromic truncus arteriosus is largely unknown. In order to identify the underlying molecular defect in a consanguineous family with recurrent tuncus arteriosus, homozygosity mapping followed by whole exome sequencing was performed. This resulted in the identification of a homozygous mutation, Arg1299Cys, in the PLXND1 gene. The mutation affected a highly conserved residue, segregated with the disease in the family and was absent from available SNP databases and ethnic matched controls. in silico comparative modeling revealed that the mutation resides in the N-terminal segment of the human plexin-D1 intracellular region which interacts with the catalytic GTPase-activating protein homology region. The mutation likely destabilizes the intracellular region, perturbing its anchoring and catalytic activity. The phenotype in human PLXND1 mutation is closely related to that of knockout mice for PLXND1, its co-receptor neuropilin-1 or its ligand SEMA3C. It is therefore suggested that SEMA3C signaling, propagated through the heterodimer receptor plexin-D1/neuropilin, is important for truncus arteriosus septation. Confirmation of this observation will require the identification of PLXND1 mutations in additional patients. Exome analysis is valuable for molecular investigation of single patients with congenital heart defects in whom chromosomal copy number variants have been excluded.
MeSH term(s)	Animals ; Cell Adhesion Molecules, Neuronal/genetics ; Cell Adhesion Molecules, Neuronal/metabolism ; Child, Preschool ; Chromosome Mapping ; Exome ; Female ; Genetic Association Studies ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/physiopathology ; Humans ; Infant ; Infant, Newborn ; Male ; Mice ; Mice, Knockout ; Middle Aged ; Mutation ; Pedigree ; Semaphorins/metabolism ; Sequence Analysis, DNA ; Signal Transduction ; Truncus Arteriosus/physiopathology
Chemical Substances	Cell Adhesion Molecules, Neuronal ; PLXND1 protein, human ; Sema3C protein, human ; Semaphorins
Language	English
Publishing date	2013-10-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.36194
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