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165 results on '"Ben‐Neriah, Ziva"'

1. Mutant cohesin in premature ovarian failure.

Author

Llano, Elena, Overbeek, Paul, Barbero, Jose, Oka, Kazuhiro, Harrison, Wilbur, Vaiman, Daniel, Ben-Neriah, Ziva, García-Tuñón, Ignacio, Fellous, Marc, Pendás, Alberto, Veitia, Reiner, Vilain, Eric, Caburet, Sandrine, and Arboleda, Valerie

Subjects
Animals, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Disease Models, Animal, Female, Humans, Infertility, Female, Mice, Mutation, Nuclear Proteins, Pedigree, Primary Ovarian Insufficiency
Abstract

Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age.

Published
2014

4. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Author

Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, The DDD study, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., and Liu, Pengfei

Published
2019
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5. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Author

Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, The DDD study, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., and Liu, Pengfei

Published
2019
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6. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

Author

Weinberg-Shukron, Ariella, Renbaum, Paul, Kalifa, Rachel, Zeligson, Sharon, Ben-Neriah, Ziva, Dreifuss, Amatzia, Abu- Rayyan, Amal, Maatuk, Noa, Fardian, Nilly, Rekler, Dina, Kanaan, Moien, Samson, Abraham O., Levy-Lahad, Ephrat, Gerlitz, Offer, and Zangen, David

Subjects
Development and progression, Genetic aspects, Research, Health aspects, Genetic research, Genetic susceptibility -- Research, Gene mutation -- Health aspects, Genetic disorders -- Development and progression, Gonadal disorders -- Genetic aspects -- Development and progression, Gene mutations -- Health aspects
Abstract

Introduction XX female gonadal dysgenesis (XX-GD) is characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. XX disorders of [...], Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of Palestinian origin, in which 4 females exhibited XX-GD. Using homozygosity mapping and wholeexome sequencing, we identified a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. NUP107 is a component of the nuclear pore complex, and the NUP107-associated protein SEH1 is required for oogenesis in Drosophila. In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile. Transgenic rescue of Drosophila females bearing the Nup107D364N mutation, which corresponds to the human NUP107 (p.D447N), resulted in almost complete sterility, with a marked reduction in progeny, morphologically aberrant eggshells, and disintegrating egg chambers, indicating defective oogenesis. These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.

Published
2015
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8. Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

Author

Lazar, Csilla H., Kimchi, Adva, Namburi, Prasanthi, Mutsuddi, Mousumi, Zelinger, Lina, Beryozkin, Avigail, Ben-Simhon, Shiran, Obolensky, Alexey, Ben-Neriah, Ziva, Argov, Zohar, Pikarsky, Eli, Fellig, Yakov, Marks-Ohana, Devorah, Ratnapriya, Rinki, Banin, Eyal, Sharon, Dror, and Swaroop, Anand

Published
2015
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10. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNAS1

Author

Walsh, Tom, Pierce, Sarah B., Lenz, Danielle R., Brownstein, Zippora, Dagan-Rosenfeld, Orit, Shahin, Hashem, Roeb, Wendy, McCarthy, Shane, Nord, Alex S., Gordon, Carlos R., Ben-Neriah, Ziva, Sebat, Jonathan, Kanaan, Moien, Ming K. Lee, Frydman, Moshe, King, Mary-Claire, and Avraham, Karen B.

Subjects
Apoptosis -- Genetic aspects, Chromosome deletion -- Analysis, Gene expression -- Analysis, Hearing loss -- Genetic aspects, Biological sciences
Abstract

Genomic DNA from affected individual II-7 was screened by arrayCGH with the Nimblegen HD2 platform to evaluate the region for microdeletions and microduplications in family members identified with tight junction (TJP2) transcript protein responsible for inherited progressive hearing loss. The results indicated that TJP2- and GSK-3[beta]-mediated increased susceptibility to apoptosis of cells of the inner ear is the mechanism for adult-onset hearing loss in the kindred family might serve as possible model for age-related hearing loss in the general population.

Published
2010

11. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye and cardiac abnormalities of Frank-Ter Haar syndrome

Author

Iqbal, Zafar, Cejudo-Martin, Pilar, de Brouwer, Arjan, van der Zwaag, Bert, Ruiz-Lozano, Pilar, Scimia, M. Cecilia, Lindsey, James D., Weinreb, Robert, Albrecht, Beate, Megarbane, Andre, Alanay, Yasemin, Ben-Neriah, Ziva, Amenduni, Mariangela, Artuso, Rosangela, Veltman, Joris A., van Beusekom, Ellen, Oudakker, Astrid, Courtneidge, Sara A., van Bokhoven, Hans, Millan, Jose Luis, Hennekam, Raoul, and Hamel, Ben

Subjects
Dysplasia -- Genetic aspects, Dysplasia -- Risk factors, Eye diseases -- Genetic aspects, Eye diseases -- Risk factors, Heart diseases -- Genetic aspects, Heart diseases -- Risk factors, Biological sciences
Abstract

Studies reveal that disruption of the podosome adaptor protein TKS4 causes the skeletal dysplasia, eye and cardiac abnormalities of the autosomal-recessive disorder Frank-Ter Haar syndrome (FTHS). An analysis identifies homozygous mutations of the SH3PXD2B gene which encodes the TKS4 protein as the cause of the disorder.

Published
2010

12. Mutant Cohesin in Premature Ovarian Failure

Author

Caburet, Sandrine, Arboleda, Valerie A., Llano, Elena, Overbeek, Paul A., Barbero, Jose Luis, Oka, Kazuhiro, Harrison, Wilbur, Vaiman, Daniel, Ben-Neriah, Ziva, García-Tuñón, Ignacio, Fellous, Marc, Pendás, Alberto M., Veitia, Reiner A., and Vilain, Eric

Published
2014
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13. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

Author

Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, and Raas-Rothschild, Annick

Subjects
Chromosome mapping -- Usage, Homozygosity -- Analysis, Gene mutations -- Analysis, Dysplasia -- Genetic aspects, Dysplasia -- Diagnosis, Dysplasia -- Care and treatment, Biological sciences
Abstract

A study report on four different mutations in the discoidin domain receptor 2 (DDR2) gene in the patients affected with the rare autosomal-recessive spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type syndrome (SMED-SL) is presented. The findings from the studies would benefit families at risk from carrier identification and early prenatal diagnosis, including preimplantation diagnosis.

Published
2009

18. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

Author

Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlene, Fiermonte, Giuseppe, Encha-Razavi, Ferechte, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attie-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, and Colleaux, Laurence

Subjects
Myoclonic epilepsy -- Research, Human genome -- Research, Electroencephalography -- Analysis, Biological sciences
Published
2005

22. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Author

Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, and Byers, Peter H.

Published
2013
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30. Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Author

Caburet, Sandrine, primary, Zavadakova, Petra, additional, Ben-Neriah, Ziva, additional, Bouhali, Kamal, additional, Dipietromaria, Aurélie, additional, Charon, Céline, additional, Besse, Céline, additional, Laissue, Paul, additional, Chalifa-Caspi, Vered, additional, Christin-Maitre, Sophie, additional, Vaiman, Daniel, additional, Levi, Giovanni, additional, Veitia, Reiner A., additional, and Fellous, Marc, additional

Published
2012
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32. Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians

Author

Abdulhadi-Atwan, Maha, primary, Jean, Amy, additional, Chung, Wendy K., additional, Meir, Karen, additional, Ben Neriah, Ziva, additional, Stratigopoulos, George, additional, Oberfield, Sharon E., additional, Fennoy, Ilene, additional, Hirsch, Harry J., additional, Bhangoo, Amrit, additional, Ten, Svetlana, additional, Lerer, Israela, additional, and Zangen, David H., additional

Published
2007
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33. Corrigendum to “When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients” [Mol. Genet. Metab. 88 (2006) 359–363]

Author

Bargal, Ruth, primary, Zeigler, Marsha, additional, Abu-Libdeh, Bassam, additional, Zuri, Vivi, additional, Mandel, Hanna, additional, Ben Neriah, Ziva, additional, Stewart, Fiona, additional, Elcioglu, Nursel, additional, Hindi, Tareq, additional, Le Merrer, Martine, additional, Bach, Gideon, additional, and Raas-Rothschild, Annick, additional

Published
2007
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36. Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population

Author

Shohat, Mordechai, primary, Frimer, Helena, additional, Shohat-Levy, Vered, additional, Esmailzadeh, Hormoz, additional, Appelman, Zvi, additional, Ben-Neriah, Ziva, additional, Dar, Hanna, additional, Orr-Urtreger, Avi, additional, Amiel, Aliza, additional, Gershoni, Ruth, additional, Manor, Esther, additional, Barkai, Gad, additional, Shalev, Stavit, additional, Gelman-Kohen, Zully, additional, Reish, Orit, additional, Lev, Dorit, additional, Davidov, Bella, additional, and Goldman, Boleslaw, additional

Published
2003
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42. Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel

Author

Shohat, Mordechai, primary, Akstein, Edna, additional, Davidov, Bella, additional, Barkai, Gad, additional, Legum, Cyril, additional, David, Miriam, additional, Dar, Hanna, additional, Romem, Yitzhak, additional, Amiel, Aliza, additional, Cohen, Hana, additional, Bach, Gideon, additional, Ben-Neriah, Ziva, additional, Sheffer, Ruth N., additional, Appelman, Zvi, additional, Chemke, Juan, additional, Zadka, Pnina, additional, Zer, Tamy, additional, and Goldman, Boleslaw, additional

Published
1995
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46. Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Author

Korman, Stanley H., Gutman, Alisa, Stemmer, Edia, Kay, Barrie S., Ben-Neriah, Ziva, and Zeigler, Marsha

Abstract

Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. We diagnosed arginase deficiency in a three-year-old male child of first-cousin Palestinian Arab parents. Prenatal diagnosis of an unaffected fetus was achieved in the second trimester of a subsequent pregnancy by cordocentesis and analysis of arginase activity in fetal erythrocytes. ARG1 mutation analysis in the proband revealed homozygosity for a deletion of 10 753 bp extending from the first intron to beyond the poly (A) site of the gene. This is the first gross deletion in the ARG1 gene to be identified and the first mutation to be described in an arginase-deficient patient of this ethnic origin. The identification of the ARG1 deletion in this family enabled first-trimester prenatal diagnosis in a subsequent pregnancy by multiplex PCR analysis performed on chorionic villous DNA. Copyright © 2004 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2004
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47. Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency

Author

AgranatMeged, Anat, Ghanadri, Yoad, Eisenberg, Iris, Ben Neriah, Ziva, KieselsteinGross, Eva, and MitraniRosenbaum, Stella

Abstract

Attention deficit hyperactivity disorder ADHD is a heterogeneous highly heritable disorder which has recently been described to be comorbid in obese subjects. This study investigated phenotypegenotype associations in a consanguineous family with genetic obesity due to the melanocortin4receptor MC4R C271R mutation. MC4R deficiency disrupts hungersatiety regulation resulting in abnormal eating behaviors. To date, the behavioralpsychiatric characteristics of MC4R deficiency have not been described except for a possible association with Binge Eating Disorder. Twentynine subjects of a family known to carry the MC4R C271R mutation, were genotyped for the mutation and underwent extensive evaluations in search for physicalpsychiatric phenotype characteristics. Subjects originated from proband nuclear families with morbid obese children BMI percentile > 97. All probands were homozygous for the MC4R C271R mutation. ADHD prevalence was higher than expected only in the groups carrying the homozygous or heterozygous mutation P  0.00057, 0.0028, respectively. An obvious difference was observed between the homozygous group and the rest of the family in terms of obesity: homozygous subjects had childhood morbid obesity whereas heterozygous subjects included lean, normal weight and later onset obese subjects. A significant difference was found in ADHD prevalence between the homozygous MC4R C271R group 80 and the rest of the family 22 P  0.033 and a significant trend was found between ADHD prevalence and the number of MC4R C271R alleles P  0.0267. We conclude that in our sample, the MC4R C271R mutation causing obesity, is in association with ADHD. Identifying specific subgroups in which the comorbidity of obesity and ADHD occur may contribute to the understanding of the underlying molecular mechanisms. © 2008 WileyLiss, Inc.

Published
2008
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48. Direct measurements of the dextran‐dependent calcium uptake by rat peritoneal mast cells

Author

Sagi-Eisenberg, Ronit, Geller-Bernstein, Carmi, Ben-Neriah, Ziva, and Pecht, Israel

Abstract

The metallochromic indicator murexide has been used to monitor calcium concentration changes during the dextran‐induced, phosphatidylserine‐dependent degranulation of rat peritoneal mast cells. The dextran‐induced Ca2+‐uptake showed an absolute dependence on the presence of phosphatidylserine. The extent of Ca2+‐uptake increased with phosphatidylserine in a concentration‐dependent manner. At 25°C the half‐life of the uptake process equalled 35 ± 5 s. Exposure of the mast cells to dextran in the presence of Ca2+, but in the absence of phosphatidylserine, desensitized the cells. The subsequent addition of phosphatidylserine failed to restore the Ca2+‐uptake activity. However, the Ca2+‐ionophore A23187 did promote Ca2+uptake by the cells without PS.

Published
1983
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