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1. Parents' Reasons for Searching for Early Care and Education and Results of Search: An Analysis Using the Access Framework. Snapshots from the NSECE. OPRE Report 2021-39

Author

Administration for Children and Families (DHHS), Office of Planning, Research and Evaluation (OPRE), Child Trends, Hill, Z., Bali, D., Gebhart, T., Schaefer, C., and Halle, T.

Abstract

Using data from the 2012 National Survey of Early Care and Education (NSECE) Household Survey, this snapshot examines the questions: (1) Why did parents with young children search for a care provider? (2) What percentage of parents found a new care provider? and (3) Why did some parents' searches end without using a new care provider? The findings presented in this snapshot illustrate some of the factors that drive demand for child care for children under age 6, not yet in kindergarten. Findings also describe the challenges that parents face when searching for providers for the first time or when looking for a new provider.

Published
2021

6. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

Author

Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, and Akihiro Asai

Subjects
Glycogen storage disease IV (GSD4), Glycogen branching enzyme 1 (GBE1), iPSCs (induced pluripotent stem cells), GBE1 enzyme activity, Hepatocyte differentiation, Cardiomyocyte differentiation, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Background: Glycogen Storage disease type 4 (GSD4), a rare disease caused by glycogen branching enzyme 1 (GBE1) deficiency, affects multiple organ systems including the muscles, liver, heart, and central nervous system. Here we report a GSD4 patient, who presented with severe hepatosplenomegaly and cardiac ventricular hypertrophy. GBE1 sequencing identified two variants: a known pathogenic missense variant, c.1544G>A (p.Arg515His), and a missense variant of unknown significance (VUS), c.2081T>A (p. Ile694Asn). As a liver transplant alone can exacerbate heart dysfunction in GSD4 patients, a precise diagnosis is essential for liver transplant indication. To characterize the disease-causing variant, we modeled patient-specific GBE1 deficiency using CRISPR/Cas9 genome-edited induced pluripotent stem cells (iPSCs). Methods: iPSCs from a healthy donor (iPSC-WT) were genome-edited by CRISPR/Cas9 to induce homozygous p.Ile694Asn in GBE1 (iPSC-GBE1-I694N) and differentiated into hepatocytes (iHep) or cardiomyocytes (iCM). GBE1 enzyme activity was measured, and PAS-D staining was performed to analyze polyglucosan deposition in these cells. Results: iPSCGBE1-I694N differentiated into iHep and iCM exhibited reduced GBE1 protein level and enzyme activity in both cell types compared to iPSCwt. Both iHepGBE1-I694N and iCMGBE1-I694N showed polyglucosan deposits correlating to the histologic patterns of the patient's biopsies. Conclusions: iPSC-based disease modeling supported a loss of function effect of p.Ile694Asn in GBE1. The modeling of GBE1 enzyme deficiency in iHep and iCM cell lines had multi-organ findings, demonstrating iPSC-based modeling usefulness in elucidating the effects of novel VUS in ultra-rare diseases.

Published
2024
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8. Screening of EPCR gene mutations in children with acute lymphoblastic leukemia

Author

Kürekçi, Emin, Bali, D. F. Akın, Özkan, Didem T., Akar, Nejat, Kürekçi, Emin, Bali, D. F. Akın, Özkan, Didem T., and Akar, Nejat

Abstract

[No abstract available], [03-107-13/2013], The study is carried out in accordance with the code of Ethics of the World Medical Association (Declaration of Helsinki) for experiments involving humans. This study involves blood from patients with leukemia. The Ankara University, School of Medicine Ethics Committee approved the study protocol (project No. 03-107-13/2013), and informed consent was provided by the patients' parents.

Published
2021

9. Screening of EPCR gene mutations in children with acute lymphoblastic leukemia

Author

Bali, D. F. Akın, Kürekçi, Emin, Akar, Nejat, Özkan, Didem T., Bali, D. F. Akın, Kürekçi, Emin, Akar, Nejat, and Özkan, Didem T.

Abstract

[No abstract available], [03-107-13/2013], The study is carried out in accordance with the code of Ethics of the World Medical Association (Declaration of Helsinki) for experiments involving humans. This study involves blood from patients with leukemia. The Ankara University, School of Medicine Ethics Committee approved the study protocol (project No. 03-107-13/2013), and informed consent was provided by the patients' parents.

Published
2021

16. Screening of Candidate Prognostic Biomarker Genes in Pediatric BCP-ALL

Author

Özdağ, H., Öner, D. Aslar, Bali, D. F. Akın, Kürekci, A. E., Akar, Nejat, Özdağ, H., Öner, D. Aslar, Bali, D. F. Akın, Kürekci, A. E., and Akar, Nejat

Abstract

Background/Objectives: BCP‐ALL (B‐cell precursor acute lymphoblastic leukemia) is characterized by recurring cytogenetic and molecular genetic abnormalities. We aimed to investigate recently identified genomic risk factors that affect the pathogenesis of BCP‐ALL, with effects on their molecular mechanism and prognostic significance by Next Generation Sequence (NGS) and gene expression analyses in childhood BCP‐ALL. The secondary aim of this study was to correlate the data obtained from study with some biological and clinical features as characteristic of pediatric BCP‐ALL patients, genetic aberrations and prognosis based on treatment protocol criteria.

Published
2019

17. Screening of Candidate Prognostic Biomarker Genes in Pediatric BCP-ALL

Author

Akar, Nejat, Bali, D. F. Akın, Öner, D. Aslar, Özdağ, H., Kürekci, A. E., Akar, Nejat, Bali, D. F. Akın, Öner, D. Aslar, Özdağ, H., and Kürekci, A. E.

Abstract

Background/Objectives: BCP‐ALL (B‐cell precursor acute lymphoblastic leukemia) is characterized by recurring cytogenetic and molecular genetic abnormalities. We aimed to investigate recently identified genomic risk factors that affect the pathogenesis of BCP‐ALL, with effects on their molecular mechanism and prognostic significance by Next Generation Sequence (NGS) and gene expression analyses in childhood BCP‐ALL. The secondary aim of this study was to correlate the data obtained from study with some biological and clinical features as characteristic of pediatric BCP‐ALL patients, genetic aberrations and prognosis based on treatment protocol criteria.

Published
2019

18. Screening of Candidate Prognostic Biomarker Genes in Pediatric BCP-ALL

Author

Bali, D. F. Akın, Öner, D. Aslar, Kürekci, A. E., Akar, Nejat, Özdağ, H., TOBB ETÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, and Akar, Nejat

Abstract

Background/Objectives: BCP‐ALL (B‐cell precursor acute lymphoblastic leukemia) is characterized by recurring cytogenetic and molecular genetic abnormalities. We aimed to investigate recently identified genomic risk factors that affect the pathogenesis of BCP‐ALL, with effects on their molecular mechanism and prognostic significance by Next Generation Sequence (NGS) and gene expression analyses in childhood BCP‐ALL. The secondary aim of this study was to correlate the data obtained from study with some biological and clinical features as characteristic of pediatric BCP‐ALL patients, genetic aberrations and prognosis based on treatment protocol criteria.

Published
2018

21. Non Hodgkin Duodenal Lymphoma in a 5 year old girl

Author

Bali D, Cekodhima G, Xhafa M, Ikonomi M, Velmishi, Bilaj F, and Cekodhima A

Subjects
Pathology, medicine.medical_specialty, business.industry, media_common.quotation_subject, medicine, Girl, medicine.disease, business, Dermatology, Lymphoma, media_common
Published
2015

23. Constipation as an Atypical Sign of ARC Syndrome - Case Report

Author

VELMISHI, V., DERVISHI, E., BALI, D., SHEHU, A., and CULLUFI, P.

Subjects
Case Report, renal tubular acidosis, cholestasis, arthrogryposis
Abstract

Background: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn’t a characteristic clinical sign. Case: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. Conclusion: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare condition can benefit the practitioner as well as the patient.

Published
2016

24. Whole-body rescue of Pompe disease with AAV liver delivery of engineered secretable GAA transgenes

Author

Colella, P., primary, Puzzo, F., additional, Biferi, M., additional, Bali, D., additional, Paulk, N., additional, Vidal, P., additional, Collaud, F., additional, Simon-Sola, M., additional, Charles, S., additional, Hardet, R., additional, Leborgne, C., additional, Sellier, P., additional, van Wittenberghe, L., additional, Boisgerault, F., additional, Barkats, M., additional, Laforêt, P., additional, Kay, M., additional, Koeberl, D., additional, Ronzitti, G., additional, and Mingozzi, F., additional

Published
2017
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31. Recombinant human acid -glucosidase: Major clinical benefits in infantile-onset Pompe disease

Author

Kishnani, P. S., primary, Corzo, D., additional, Nicolino, M., additional, Byrne, B., additional, Mandel, H., additional, Hwu, W. L., additional, Leslie, N., additional, Levine, J., additional, Spencer, C., additional, McDonald, M., additional, Li, J., additional, Dumontier, J., additional, Halberthal, M., additional, Chien, Y. H., additional, Hopkin, R., additional, Vijayaraghavan, S., additional, Gruskin, D., additional, Bartholomew, D., additional, van der Ploeg, A., additional, Clancy, J. P., additional, Parini, R., additional, Morin, G., additional, Beck, M., additional, De la Gastine, G. S., additional, Jokic, M., additional, Thurberg, B., additional, Richards, S., additional, Bali, D., additional, Davison, M., additional, Worden, M. A., additional, Chen, Y. T., additional, and Wraith, J. E., additional

Published
2011
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33. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Author

Winchester, B., primary, Bali, D., additional, Bodamer, O.A., additional, Caillaud, C., additional, Christensen, E., additional, Cooper, A., additional, Cupler, E., additional, Deschauer, M., additional, Fumić, K., additional, Jackson, M., additional, Kishnani, P., additional, Lacerda, L., additional, Ledvinová, J., additional, Lugowska, A., additional, Lukacs, Z., additional, Maire, I., additional, Mandel, H., additional, Mengel, E., additional, Müller-Felber, W., additional, Piraud, M., additional, Reuser, A., additional, Rupar, T., additional, Sinigerska, I., additional, Szlago, M., additional, Verheijen, F., additional, van Diggelen, O.P., additional, Wuyts, B., additional, Zakharova, E., additional, and Keutzer, J., additional

Published
2008
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35. Recombinant human acid -glucosidase: Major clinical benefits in infantile-onset Pompe disease

Author

Kishnani, P. S., primary, Corzo, D., additional, Nicolino, M., additional, Byrne, B., additional, Mandel, H., additional, Hwu, W. L., additional, Leslie, N., additional, Levine, J., additional, Spencer, C., additional, McDonald, M., additional, Li, J., additional, Dumontier, J., additional, Halberthal, M., additional, Chien, Y. H., additional, Hopkin, R., additional, Vijayaraghavan, S., additional, Gruskin, D., additional, Bartholomew, D., additional, van der Ploeg, A., additional, Clancy, J. P., additional, Parini, R., additional, Morin, G., additional, Beck, M., additional, De la Gastine, G. S., additional, Jokic, M., additional, Thurberg, B., additional, Richards, S., additional, Bali, D., additional, Davison, M., additional, Worden, M. A., additional, Chen, Y. T., additional, and Wraith, J. E., additional

Published
2006
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40. Longitudinal melanonychia: report of 22 cases.

Author

Bali, D., Casanova, D., Aharoni, C., Mutaftschiev, N., Cilirie, K., and Legré, R.

Subjects
*MELANOMA, *DERMATOLOGIC surgery, *PRECANCEROUS conditions, *CANCER treatment
Abstract

Introduction – Longitudinal melanonychia is a diagnostic and treatment problem for the surgeon. Fear of melanoma most frequently leads to total excision of nail bed, matrix and plate.Method – Twenty two patients, aged from 7 to 77, were operated on from 89 to 98 in our department, using different techniques (total matrix biopsy, total excision of melanonichia with direct suture, Schernberg flap).Results – Thumb and index are predominant locations (11 out of 16). No malignant lesions were found histologically. Aesthetic sequellae were frequent and directly linked to the width and location of the melanonychia. Limited matrix biopsy produce the best aesthetic result.Discussion – Malignant lesions are rare and our series is short. Therefore an additional multicentric study is required. Our choice is to make a limited matrix biopsy in the first place with a minimal aesthetic prejudice. Histology determines the treatment choice: excision or follow up. [Copyright &y& Elsevier]

Published
2002
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41. Recombinant human acid α-glucosidase

Author

Kishnani, P S., Corzo, D, Nicolino, M, Byrne, B, Mandel, H, Hwu, W L., Leslie, N, Levine, J, Spencer, C, McDonald, M, Li, J, Dumontier, J, Halberthal, M, Chien, Y H., Hopkin, R, Vijayaraghavan, S, Gruskin, D, Bartholomew, D, van der Ploeg, A, Clancy, J P., Parini, R, Morin, G, Beck, M, Gastine, G S. De la, Jokic, M, Thurberg, B, Richards, S, Bali, D, Davison, M, Worden, M A., Chen, Y T., and Wraith, J E.

Abstract

Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid α-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease.

Published
2007
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43. Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.

Author

Bali, D, Svetlanov, A, Lee, H W, Fusco-DeMane, D, Leiser, M, Li, B, Barzilai, N, Surana, M, Hou, H, and Fleischer, N

Abstract

Glucokinase catalyzes a rate-limiting step in glucose metabolism in hepatocytes and pancreatic beta cells and is considered the "glucose sensor" for regulation of insulin secretion. Patients with maturity-onset diabetes of the young (MODY) have heterozygous point mutations in the glucokinase gene that result in reduced enzymatic activity and decreased insulin secretion. However, it remains unclear whether abnormal liver glucose metabolism contributes to the MODY disease. Here we show that disruption of the glucokinase gene results in a phenotype similar to MODY in heterozygous mice. Reduced islet glucokinase activity causes mildly elevated fasting blood glucose levels. Hyperglycemic clamp studies reveal decreased glucose tolerance and abnormal liver glucose metabolism. These findings demonstrate a key role for glucokinase in glucose homeostasis and implicate both islets and liver in the MODY disease.

Published
1995

44. The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression.

Author

DeFranco, D, Bali, D, Torres, R, DePinho, R A, Erickson, R P, and Gluecksohn-Waelsch, S

Abstract

Wild-type newborn mice are characterized by the ability of certain liver-specific genes encoding various enzymes and mapping on different chromosomes to respond to glucocorticoid induction. Newborn mice homozygous for deletions at and around the albino locus on chromosome 7 fail to develop this competence for hormone-inducible gene expression even through they do show normal constitutive expression of the same genes. Studies of the glucocorticoid hormone signal transduction pathway reported here show identical expression of glucocorticoid receptor mRNA and protein in deletion homozygotes and normal littermates. Furthermore, the receptor interacts normally with the 90-kDa heat shock protein hsp90. Elevated glucocorticoid hormone levels in newborn deletion homozygotes, most likely resulting from their stressed condition, provide an explanation for the reduced binding activities of receptors reported previously. The elimination of receptors and hormones as direct targets of the chromosomal deletion effects suggests that the failure of inducible gene expression might reside in defective competence of the affected structural genes to respond to the hormonal stimulus.

Published
1991
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45. Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions.

Author

Zaret, K S, Milos, P, Lia, M, Bali, D, and Gluecksohn-Waelsch, S

Abstract

Several overlapping chromosomal deletions spanning the albino locus in the mouse cause perinatal lethality when homozygous and a block in the transcriptional induction of various unlinked hepatocyte-specific genes. Studies of such lethal albino deletion homozygotes in perinatal stages revealed a deficiency in the transcriptional inducibility of the tyrosine aminotransferase (TAT) gene by glucocorticoids; yet, glucocorticoid receptor and hormone levels were shown to be unaffected. To identify a molecular defect underlying the failure of inducible expression, we examined the chromatin structure of the TAT gene. Whereas in wild-type animals the TAT promoter becomes DNase I hypersensitive at birth, such hypersensitivity fails to develop in lethal albino deletion homozygotes. By contrast, the deletions do not affect the appearance of three DNase I-hypersensitive sites upstream of the TAT promoter in the liver, nor do they affect two hypersensitive sites upstream of the expressed alpha-fetoprotein gene. These findings demonstrate that the abnormality of chromatin structure identified in lethal albino deletion homozygotes occurs on a highly selective basis. Specifically, normal differentiation of the TAT promoter chromatin appears to depend directly or indirectly on the action and product of a gene mapping within the deleted region.

Published
1992
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46. Comprehensive mutation analysis of the ras/raf/mek/erk pathway in paediatric leukaemia and significant inferences

Author

Akin-Bali, D. F., Aktas, S. H., Ozcan, A., Yilmaz, E., Aydin, F., Gok, V., Unal, E., and Musa Karakukcu

Abstract

Objectives: Leukaemia is the most common cancer among paediatric population accounting for about 30% of paediatric cancer. As it's known, germ line mutations increase the risk of development of haematopoietic malignancy in childhood and deregulation of the Rat Sarcoma Viral Proto-Oncogene/Raf-1 Proto-Oncogene/Mitogen-Activated Protein Kinases/Extracellular Regulated Kinases (RAS/RAF/MEK/ERK) pathway is often caused by somatic mutations in the genes coding proteins of KRAS, NRAS, FLT3, PTPN11 and BRAF. However, mutations in this pathway in paediatric Acute Lymphoblastic Leukaemia (ALL) have not been thoroughly investigated, yet. Methods: Specific exons of 7 significant genes which were frequently mutated in the RAS/RAF/MEK/ERK pathway were determined inclusively by DNA sequence analysis in 27 children with leukaemia. PolyPhen-2 and SNAP tools were used to verify and estimate the determined changes. Also, evolutionary conservation analysis was performed. Results: Seven changes out of 22 changes were identified for the first time in this study. ERK2 p.P319S (18.5%) mutation and KRAS splice site mutation (3.7%) were predicted to be pathogenic. ERK2 p.P319S mutations was found to be pathogenic and at the critical point on the aminoacid which is evalutionary conserved. Although the frequency of mutations in ERK2 is very low in cancers (0.88%), the frequency of ERK2 p.P319S missense change was detected in our study at a significant rate such as 18.5%. Conclusion: There is limited knowledge about ERK inhibitors in leukaemia. The low frequency of ERK gene compared to KRAS and NRAS genes does not make ERK mutations less important. Our findings indicate the importance of this pathway mutations in paediatric ALL and associated with high risk leukaemia group characteristics. Hence, it can be evaluated as a signalisation pathway to target pharmacologically.

50. Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase.

Author

Lia, M, Bali, D, and Gluecksohn-Waelsch, S

Abstract

A cluster of unlinked genes encoding gluconeogenic enzymes in the mouse is characterized by the failure of normal hormone-inducible expression in animals homozygous for one of several overlapping deletions mapping on chromosome 7 near the albino locus. Previous investigations have shown hormones and their receptors to be normal in the mutants and therefore not responsible for the abnormalities of inducibility. Instead, these studies have implicated a possible failure of the affected structural enzyme genes themselves to attain during prenatal development the competence for inducible gene expression. The results reported here add serine dehydratase (EC 4.2.1.13) and its structural gene to the affected group of gluconeogenic enzymes and their genes. Even though, in deletion homozygotes, serine dehydratase is expressed normally on the constitutive level, hormone-inducible expression fails to develop. The abnormality appears to reside in a defect of prenatal differentiation of cis-acting regulatory elements of the structural gene essential in the pathway of inducible gene expression.

Published
1992
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