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20 results on '"Godbole Tushar"'

1. Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets

Author

Gupta, Piyush, Dabas, Aashima, Seth, Anju, Bhatia, Vijay Lakshmi, Khadgawat, Rajesh, Kumar, Praveen, Balasubramanian, S., Khadilkar, Vaman, Mallikarjuna, H. B., Godbole, Tushar, Krishnamurthy, Sriram, Goyal, Jagdish Prasad, Bhakhri, Bhanu Kiran, Ahmad, Ayesha, Angadi, Kumar, Basavaraja, G. V., Parekh, Bakul J., Kurpad, Anura, Marwaha, R. K., Shah, Dheeraj, Munns, Craig, and Sachdev, H. P. S.

Published
2022
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2. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

Author

Gangodkar, Priyanka, Khadilkar, Vaman, Raghupathy, P., Kumar, Rakesh, Dayal, Archana Arya, Dayal, Devi, Ayyavoo, Ahila, Godbole, Tushar, Jahagirdar, Rahul, Bhat, Kavitha, Gupta, Neerja, Kamalanathan, Sadishkumar, Jagadeesh, Sujatha, Ranade, Shatakshi, Lohiya, Nikhil, Oke, Rashmi Lote, Ganesan, Karthik, Khatod, Kavita, Agarwal, Meenal, Phadke, Nikhil, and Khadilkar, Anuradha

Published
2021
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3. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

Author

De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N., Fantuzzi, Federica, Patel, Kashyap, Demarez, Celine, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Vaino, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W., Johnson, Matthew B., Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yildirim, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E., Vanderhaeghen, Pierre, Senee, Valerie, Julier, Cecile, Marchetti, Piero, Eizirik, Decio L., Ellard, Sian, Saarimaki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, and Hattersley, Andrew T.

Subjects
Pediatric research, Diabetes mellitus -- Genetic aspects -- Causes of -- Development and progression, Microcephaly -- Genetic aspects -- Causes of -- Development and progression, Stress (Physiology) -- Genetic aspects -- Health aspects, Neonatal diseases -- Genetic aspects -- Causes of -- Development and progression, Endoplasmic reticulum -- Physiological aspects -- Health aspects, Health care industry
Abstract

Neonatal diabetes is caused by single gene mutations reducing pancreatic [beta] cell number or impairing [beta] cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in [beta] cells. We identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involved in trafficking between the endoplasmic reticulum (ER) and the Golgi. All patients had neonatal/early-onset diabetes, severe microcephaly, and epilepsy. YIPF5 is expressed during human brain development, in adult brain and pancreatic islets. We used 3 human [beta] cell models (YIPF5 silencing in EndoC-[beta]H1 cells, YIPF5 knockout and mutation knockin in embryonic stem cells, and patient-derived induced pluripotent stem cells) to investigate the mechanism through which YIPF5 loss of function affects [beta] cells. Loss of YIPF5 function in stem cell-derived islet cells resulted in proinsulin retention in the ER, marked ER stress, and p cell failure. Partial YIPF5 silencing in EndoC-[beta]H1 cells and a patient mutation in stem cells increased the [beta] cell sensitivity to ER stress-induced apoptosis. We report recessive YIPF5 mutations as the genetic cause of a congenital syndrome of microcephaly, epilepsy, and neonatal/early-onset diabetes, highlighting a critical role of YIPF5 in [beta] cells and neurons. We believe this is the first report of mutations disrupting the ER-to-Golgi trafficking, resulting in diabetes., Introduction Neonatal diabetes mellitus develops before 6 months of age and is caused by reduced pancreatic [beta] cell number (reduced formation/increased destruction) or impaired [beta] cell function. Previous studies have [...]

Published
2020
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5. Erratum

Author

Gupta, Piyush, Dabas, Aashima, Seth, Anju, Bhatia, Vijay Lakshmi, Khadgawat, Rajesh, Kumar, Praveen, Balasubramanian, S., Khadilkar, Vaman, Mallikarjuna, H. B., Godbole, Tushar, Krishnamurthy, Sriram, Goyal, Jagdish Prasad, Bhakhri, Bhanu Kiran, Ahmad, Ayesha, Angadi, Kumar, Basavaraja, G. V., Parekh, Bakul J., Kurpad, Anura, Marwaha, R. K., Shah, Dheeraj, Munns, Craig, and Sachdev, H. P. S.

Published
2022
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7. Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets

Author

Gupta, Piyush, primary, Dabas, Aashima, additional, Seth, Anju, additional, Bhatia, Vijay Lakshmi, additional, Khadgawat, Rajesh, additional, Kumar, Praveen, additional, Balasubramanian, S., additional, Khadilkar, Vaman, additional, Mallikarjuna, H. B., additional, Godbole, Tushar, additional, Krishnamurthy, Sriram, additional, Goyal, Jagdish Prasad, additional, Bhakhri, Bhanu Kiran, additional, Ahmad, Ayesha, additional, Angadi, Kumar, additional, Basavaraja, G. V., additional, Parekh, Bakul J., additional, Kurpad, Anura, additional, Marwaha, R. K., additional, Shah, Dheeraj, additional, Munns, Craig, additional, and Sachdev, H. P. S., additional

Published
2021
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8. YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: Translational research

Author

B Johnson Matthew, Lithovius Vaino, Ibrahim Hazem, Ellard Sian, Vanderhaeghen Pierre, Yildirim Ruken, Montaser Hossam, Cai Ying, Julier Cecile, L Eizirik Decio, Pachera Nathalie, Fantuzzi Federica, Vihinen Helena, Haliloglu Belma, Saarimaki-Vire Jonna, Sawatani Toshiaki, Demarez Celine, Senee Valerie, T. Hattersley Andrew, Otonkoski Timo, Shakeri Hadis, Nuri Ozbek Mehmet, E Flanagan Sarah, Yildiz Melek, Aydin Banu, Godbole Tushar, W Laver Thomas, Cnop Miriam, Unal Edip, Suzuki Ikuo, Marchetti Piero, De Franco Elisa, Lytrivi Maria, Igoillo-Esteve Mariana, Wakeling Matthew, Patel Kashyap, Jokitalo Eija, Bilheu Angeline, and Cosentino Cristina

Subjects
Microcephaly, symbols.namesake, Endoplasmic reticulum, Diabetes mellitus, medicine, symbols, Translational research, Biology, Golgi apparatus, medicine.disease, Cell biology
Published
2020
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9. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

Author

Gangodkar, Priyanka, primary, Khadilkar, Vaman, additional, Raghupathy, P., additional, Kumar, Rakesh, additional, Dayal, Archana Arya, additional, Dayal, Devi, additional, Ayyavoo, Ahila, additional, Godbole, Tushar, additional, Jahagirdar, Rahul, additional, Bhat, Kavitha, additional, Gupta, Neerja, additional, Kamalanathan, Sadishkumar, additional, Jagadeesh, Sujatha, additional, Ranade, Shatakshi, additional, Lohiya, Nikhil, additional, Oke, Rashmi Lote, additional, Ganesan, Karthik, additional, Khatod, Kavita, additional, Agarwal, Meenal, additional, Phadke, Nikhil, additional, and Khadilkar, Anuradha, additional

Published
2020
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10. A novel syndrome of neonatal diabetes, microcephaly and epilepsy caused by homozygous mutations in YIPF5

Author

Vanderhaeghen Pierre, Franco Elisa De, Patel Kashyap, Haliloglu Belma, Unal Edip, Godbole Tushar, Ellard Sian, Cnop Miriam, Igoillo-Esteve Mariana, Bilheu Angeline, Lytrivi Maria, Wakeling Matthew, Yildiz Melek, and Andrew T. Hattersley

Subjects
Pediatrics, medicine.medical_specialty, Epilepsy, Microcephaly, business.industry, Neonatal diabetes, medicine, business, medicine.disease
Published
2018
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11. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children

Author

Gupta, Suchit, primary, Joshi, Kriti, additional, Zaidi, Ghazala, additional, Sarangi, Aditya Narayan, additional, Mandal, Kausik, additional, Bhavani, Nisha, additional, Pavithran, Praveen V., additional, Pillai, Mini G., additional, Singh, Surya K., additional, Godbole, Tushar, additional, Bhatia, Vijayalakshmi, additional, and Bhatia, Eesh, additional

Published
2019
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12. 360-OR: A Novel Genetic Syndrome of Early-Onset Diabetes, Microcephaly, and Epilepsy Due to Homozygous YIPF5 Mutations

Author

LYTRIVI, MARIA, primary, FRANCO, ELISA DE, additional, PATEL, KASHYAP A., additional, ESTEVE, MARIANA IGOILLO, additional, COSENTINO, CRISTINA, additional, WAKELING, MATTHEW N., additional, HALILOGLU, BELMA, additional, YILDIZ, MELEK, additional, GODBOLE, TUSHAR, additional, HATTERSLEY, ANDREW T., additional, and CNOP, MIRIAM, additional

Published
2019
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14. De Sanctis-Cacchione syndrome

Author

Mittal, Hema, Mehndiratta, Sumit, Kaushik, Jaya, and Godbole, Tushar

Subjects
Gene mutations -- Health aspects, Xeroderma pigmentosum -- Diagnosis -- Care and treatment -- Case studies -- Genetic aspects, Health
Abstract

Byline: Hema. Mittal, Sumit. Mehndiratta, Jaya. Kaushik, Tushar. Godbole Sir, De Sanctis-Cacchione syndrome (DSC) (MIM #278800) is a rare autosomal recessive disorder with a gene map locus of 10q11, originally [...]

Published
2013

15. Clinical application of a novel next generation sequencing assay for CYP21A2gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

Author

Gangodkar, Priyanka, Khadilkar, Vaman, Raghupathy, P., Kumar, Rakesh, Dayal, Archana Arya, Dayal, Devi, Ayyavoo, Ahila, Godbole, Tushar, Jahagirdar, Rahul, Bhat, Kavitha, Gupta, Neerja, Kamalanathan, Sadishkumar, Jagadeesh, Sujatha, Ranade, Shatakshi, Lohiya, Nikhil, Oke, Rashmi Lote, Ganesan, Karthik, Khatod, Kavita, Agarwal, Meenal, Phadke, Nikhil, and Khadilkar, Anuradha

Abstract

Purpose: Accurate diagnosis is required for management of Congenital adrenal hyperplasia (CAH). The conventional method for detection of mutations in the CYP21A2gene is targeted capillary sequencing which is labor intensive and has limited multiplexing capability. Next generation sequencing (NGS) provides data with high sequence coverage and depth. Our objective was to develop an accurate NGS-based assay to characterize the mutation spectrum in CYP21A2gene in Indian patients suspected to have 21-OH CAH. Methods: Cases with 21-OH CAH from 12 endocrine units across India were studied. DNA was extracted from proband’s and parent’s(subset) blood. Locus-specific long-range PCR and gel electrophoresis of amplicons was followed by NGS where no visible 30?kb homozygous/whole gene deletion was observed. Orthogonal confirmation was performed by capillary sequencing (ABI 3500) and Multiplex Ligation-dependent Probe Amplification (MLPA, MRC-Holland). PCR products were purified and individual libraries were pooled and sequenced (Illumina). Results: Of the 310 CAH cases, biallelic mutations (pathogenic/ likely pathogenic variants involving both CYP21A2gene copies) were detected in 256 (82.6%), heterozygous mutations in 13 (4.2 %), and none in 41 (13.2%). Most common mutation was c.293-13A/C>G (29.03%), followed by 30?kb deletion (18.24%). Thirty samples tested orthogonally (by capillary sequencing or MLPA) showed 100% concordance with NGS assay. Nine novel variants were identified. Conclusions: We have developed and validated a comprehensive NGS-based assay for detection of variants in CYP21A2gene in patients with 21-OH CAH. We describe CYP21A2mutation spectrum and novel variants in a large cohort of Indian patients with CAH.

Published
2021
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