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1. PIGN encephalopathy: Characterizing the epileptology

Author

Bayat, A, Valles-Ibanez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczynska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Moller, RS, Sadleir, LG, Bayat, A, Valles-Ibanez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczynska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Moller, RS, and Sadleir, LG

Abstract

OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified. RESULTS: Twenty six patients (13 female) from 26 families were identified, with mean age 7 years (range = 1 month to 21 years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14/26) or severe (11/26). Patients presented with focal motor (12/26), unknown onset motor (5/26), focal impaired awareness (1/26), absence (2/26), myoclonic (2/26), myoclonic-atonic (1/26), and generalized tonic-clonic (2/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11/20) focal DEE, 30% (6/20) generalized DEE, and 15% (3/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two generalized and four focal epilepsy. Mean age at seizure onset was 13 months (birth to 10 years), with a lower mean onset in DEE (7 months) compared with ID+E (33 months). Patients with DEE had drug-resistant epilepsy, compared to 4/6 ID+E patients, who were seizure-free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty-seven of 34 variants were novel. Variants were truncating (n = 7), intronic and predicted to affect splicing (n = 7), and missense or inframe indels (n = 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures. SIGNIFICANCE: PIGN encephalopathy is a complex

Published
2022

2. Tumor Suppressor Genes

Author

Weissman, B. E., Stock, G., editor, Habenicht, U.-F., editor, Sobol, R. E., editor, Scanlon, K. J., editor, and Nestaas, E., editor

Published
1998
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17. BRG-1 is required for RB-mediated cell cycle arrest

Author

DeCristofaro, M. F., Weissman, B. E., Strobeck, M. W., Knudsen, E. S., Knudsen, K. E., Fribourg, A. F., and Imbalzano, A. N.

Abstract

The antiproliferative action of the retinoblastoma tumor suppressor protein, RB, is disrupted in the majority of human cancers. Disruption of RB activity occurs through several disparate mechanisms, including viral oncoprotein binding, deregulated RB phosphorylation, and mutation of the RB gene. Here we report disruption of RB-signaling in tumor cells through loss of a critical cooperating factor. We have previously reported that C33A cells fail to undergo cell cycle inhibition in the presence of constitutively active RB (PSM-RB). To determine how C33A cells evade RB-mediated arrest, cell fusion experiments were performed with RB-sensitive cells. The resulting fusions were arrested by PSM-RB, indicating that C33A cells lack a factor required for RB-mediated cell cycle inhibition. C33A cells are deficient in BRG-1, a SWI/SNF family member known to stimulate RB activity. Consistent with BRG-1 deficiency underlying resistance to RB-mediated arrest, we identified two other BRG-1-deficient cell lines (SW13 and PANC-1) and demonstrate that these tumor lines are also resistant to cell cycle inhibition by PSM-RB and p16ink4a, which activates endogenous RB. In cell lines lacking BRG-1, we noted a profound defect in RB-mediated repression of the cyclin A promoter. This deficiency in RB-mediated transcriptional repression and cell cycle inhibition was rescued through ectopic coexpression of BRG-1. We also demonstrate that 3T3-derived cells, which inducibly express a dominant-negative BRG-1, arrest by PSM-RB and p16ink4a in the absence of dominant-negative BRG-1 expression; however, cell cycle arrest was abrogated on induction of dominant-negative BRG-1. These findings demonstrate that BRG-1 loss renders cells resistant to RB-mediated cell cycle progression, and that disruption of RB signaling through loss of cooperating factors occurs in cancer cells.

Published
2000
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18. Hydrogel Lens Solution Chemistry

Author

Bennett, E, Weissman, B, Carney, Leo, Barr, Joseph T., Hill, Richard, Bennett, E, Weissman, B, Carney, Leo, Barr, Joseph T., and Hill, Richard

Published
2005

22. The effect of very low birth weight and social risk on neurocognitive abilities at school age

Author

Hack M, Breslau N, Dorit Aram, Weissman B, Klein N, and Borawski-Clark E

Subjects
Male, Intelligence, Infant, Newborn, Infant, Child Behavior Disorders, Infant, Premature, Diseases, Infant, Low Birth Weight, Neuropsychological Tests, Social Environment, Cohort Studies, Child, Preschool, Educational Status, Humans, Brain Damage, Chronic, Female, Language Development Disorders, Longitudinal Studies, Child, Cognition Disorders, Social Adjustment, Follow-Up Studies
Abstract

We tested the hypothesis that very low birth weight (VLBW1.5 kg) children would have significantly poorer neurocognitive abilities at school age than would normal birth weight full-term age mates, that differences would persist after control for neurologic impairment and social risk, and that VLBW would interact with social risk. Two hundred forty-nine VLBW children and a randomly selected sample of 363 normal birth weight age mates born 1977 through 1979 were tested at 8 years. A neurologic examination and tests of intelligence, language, speech, reading, mathematics, spelling, visual and fine motor abilities, and behavior were performed. Twenty-four (10%) VLBW had a major neurologic abnormality compared with none of the controls. VLBW had significantly poorer scores on all tests, with the exception of speech and the total behavior score. These differences persisted among VLBW children without major neurologic abnormality, with the exception of social competence, reading, and spelling. Even normal IQ, neurologically normal VLBW had significantly poorer scores than did controls in expressive language, memory, visuomotor, and fine motor function, and measures of hyperactivity. When social risk was controlled in multiple regression analyses, VLBW still had an adverse effect on all outcome measures with the exception of speech. Social risk was, however, the major determinant of outcome. We found an interaction between VLBW and social risk only in verbal IQ and in the opposite direction than hypothesized.

Published
1992

28. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

Author

Musumeci, O., primary, Naini, A., additional, Slonim, A. E., additional, Skavin, N., additional, Hadjigeorgiou, G. L., additional, Krawiecki, N., additional, Weissman, B. M., additional, Tsao, C.-Y., additional, Mendell, J. R., additional, Shanske, S., additional, De Vivo, D. C., additional, Hirano, M., additional, and DiMauro, S., additional

Published
2001
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43. BRG1 loss in MiaPaCa2 cells induces an altered cellular morphology and disruption in the organization of the actin cytoskeleton.

Author

Rosson, Gary B., Bartlett, Christopher, Reed, William, and Weissman, B. E.

Subjects
MORPHOLOGY, CHROMATIN, CANCER, CYTOSKELETON, TUMORS, CELL lines
Abstract

BRG1 and Brahma are critical and mutually exclusive subunits of the multi-constituent SWI/SNF chromatin remodeling complexes. These complexes play a key role in transcriptional regulation by dynamically altering chromatin architecture. Although the two proteins are very similar in structure, murine models demonstrate a clear dichotomy in BRG1/BRM function as heterozygous loss of BRG1 results in tumor development whereas homozygous loss of BRM does not. BRG1 and/or BRM protein is absent or disrupted in approximately 17% of all human adenocarcinomas. Concomitant loss is frequent in non-small cell lung carcinomas and incurs a negative prognosis. The mechanism(s) whereby loss of BRG1 (but apparently not BRM) may contribute to tumor development and/or progression is/are ill defined. In this study, we employ MiaPaCa2, a human pancreatic adenocarcinoma cell line that lacks BRM but retains BRG1 expression to evaluate the impact of BRG1 and BRM individually on growth and tumorigenicity. We show that the MiaPaca2 cell line can apparently tolerate only very low levels of BRM after restoration of stable expression. Reduction of expression of BRG1 via shRNAi in stable clones of MiaPaCa2 results in a marked change in morphology and alterations in actin cytoskeletal organization but does not appear to exert a significant effect on in vitro growth of the cell line. Our results implicate a role for the SWI/SNF complex in the regulation of cellular differentiation. © 2005 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2005
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45. Differentiation and activity of mast cells following immunization in cultures of lymph-node cells.

Author

Ginsburg, H., Nir, I., Hammel, I., Eren, Rina, Weissman, B.-A., and Naot, Yehudith

Subjects
MAST cells, CELL differentiation, LYMPHOCYTES, IMMUNIZATION, IMMUNOLOGY
Abstract

An extensive clonal differentiation into mast cells from primitive blast cell precursors occurred when lymph node cells obtained from mice immunized with horse serum were cultured on mouse embryonic skin monolayers. Horse serum was always present in the culture as a constituent of the nutritional medium. Mast cells developed to lesser extent also in cultures prepared from non- immunized mice. However, a clear difference in mast cell-granule ultrastructure and in histamine content was noted between the two. In cultures of lymph nodes cells from non-immunized mice the granules were tiny and uniform in size and in staining density; whereas granules in the immune cultures were larger and non-uniform in size and in staining density, and the intragranular organization manifested alterations of various forms. The content of intracellular histamine per 106 mast cells was about equal in both cultures. How- ever, much more free histamine (per 106 mast cells) gradually accumulated in cultures of the immune lymph node cells, indicating higher rates of synthesis and release of histamine. The mast cells were readily degranulated by heat-inactivated (IgG1) sera of the mice used as donors of the lymph node cells. 92 % of the mast cells were degranulated and as much as 80 % of the histamine was released. The degranulation was accompanied by an immediate (albeit reversible) response of the fibroblast cells in the monolayer. A shift of the well-stretched cytoplasm of the fibroblasts opened numerous ‘windows’ over the whole monolayer. [ASA TEXT GREATER THAN 2000 CHARACTERS, CONTINUATION DELETED, COMPLETE ASA TEXT CAN BE FOUND AT ASA TEXT DRIVE] [ABSTRACT FROM AUTHOR]

Published
1978

50. Tendon shift in hallux valgus: observations at MR imaging.

Author

Eustace, S., Williamson, Daniel, Wilson, Michael, O'Byrne, J., Bussolari, Lisa, Thomas, Mark, Stephens, Michael, Stack, John, Weissman, Barbara, Williamson, D, Wilson, M, Bussolari, L, Thomas, M, Stephens, M, Stack, J, and Weissman, B

Abstract

Objective: This study was undertaken to demonstrate a shift in tendon alignment at the first metatarsophalangeal joint in patients with hallux valgus by means of magnetic resonance imaging.Design: Ten normal feet and 20 feet with the hallux valgus deformity conforming to conventional clinical and radiographic criteria were prospectively studied using magnetic resonance imaging. Correlation was made between tendon position at the first metatarsophalangeal joint and the severity of the hallux valgus deformity.Results: There is a significant shift in tendon position at the first metatarsophalangeal joint of patients with hallux valgus. The insertion of the abductor hallucis tendon is markedly plantarward and the flexor and extensor tendons bowstring at the first metatarsophalangeal joint compared with patients without the deformity. The severity of the tendon shift correlates with the hallux valgus angle and clinical severity of the hallux valgus deformity in each case.Conclusion: Patients with hallux valgus have a significant tendon shift at the first metatarsophalangeal joint which appears to contribute to development of the deformity. [ABSTRACT FROM AUTHOR]

Published
1996
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