Search Results - "Rao Vundinti, Babu"

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes by Maurya, Nehakumari, Mohanty, Purvi, Dhangar, Somprakash, Panchal, Purvi, Jijina, Farah, Mathan, S. Leo Prince, Shanmukhaiah, Chandrakala, Madkaikar, Manisha, Vundinti, Babu Rao

“…Myelodysplastic syndromes (MDS) are a group of clonal hematological disease with high risk of progression to AML. Accurate risk stratification is of importance…”
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array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants by Dhangar, Somprakash, Ghatanatti, Jagdeeshwar, Vundinti, Babu Rao

“…Klinefelter syndrome (KS) variants often share common features with classical syndrome but some of these variants present with a distinct phenotype. The…”
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Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features by Dhangar, Somprakash, Korgaonkar, Seema, Vundinti, Babu Rao

“…Trisomy 9 including mosaic and partial trisomy is less frequently seen chromosomal abnormality in live born children. The pure or partial trisomy 9 frequently…”
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Mitochondrial DNA variations and mitochondrial dysfunction in Fanconi anemia by Solanki, Avani, Rajendran, Aruna, Mohan, Sheila, Raj, Revathy, Vundinti, Babu Rao

“…In-vitro studies with different Fanconi anemia (FA) cell lines and FANC gene silenced cell lines indicating involvement of mitochondria function in…”
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A novel DKC1 gene mutation c.1177 A>T (p.I393F) in a case of dyskeratosis congenita with severe telomere shortening by Mohanty, Purvi, Jadhav, Prajakta, Shanmukhaiah, Chandrakala, Kumar, Selvaa, Vundinti, Babu Rao

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Lack of association between functional polymorphism of DNA repair genes (XRCC1, XPD) and clinical response in Indian chronic myeloid leukemia patients by Dhangar, Somprakash, Shanbhag, Vinay, Shanmukhaiah, Chandrakala, Vundinti, Babu Rao

“…The resistance for the tyrosine kinase inhibitors in chronic myeloid leukemia (CML) occurs mainly due to BCR/ABL1 dependent and independent mechanisms. The…”
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A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects by George, Merin, Solanki, Avani, Chavan, Niranjan, Rajendran, Aruna, Raj, Revathi, Mohan, Sheila, Nemani, Sandeep, Kanvinde, Shailesh, Munirathnam, Deendayalan, Rao, Sudha, Radhakrishnan, Nita, Lashkari, Harsha Prasada, Ghildhiyal, Radha Gulati, Manglani, Mamta, Shanmukhaiah, Chandrakala, Bhat, Sunil, Ramesh, Sowmyashree, Cherian, Anchu, Junagade, Pritesh, Vundinti, Babu Rao

“…Fanconi anemia (FA) is a rare autosomal or X‐linked genetic disorder characterized by chromosomal breakages, congenital abnormalities, bone marrow failure…”
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Severe telomere shortening in Fanconi anemia complementation group L by Shah, Anjali, George, Merin, Dhangar, Somprakash, Rajendran, Aruna, Mohan, Sheila, Vundinti, Babu Rao

“…Fanconi Anemia (FA) is a rare genetic disease with the incidence of 1 in 360,000 and is characterised by bone marrow failure, physical abnormalities,…”
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Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations by Dhangar, Somprakash, Panchal, Purvi, Ghatanatti, Jagdeeshwar, Suralkar, Jitendra, Shah, Anjali, Vundinti, Babu Rao

“…Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is…”
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Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations by Dhangar, Somprakash, Panchal, Purvi, Ghatanatti, Jagdeeshwar, Suralkar, Jitendra, Shah, Anjali, Vundinti, Babu Rao

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Evolution of BCR/ABL gene mutation in CML is time dependent and dependent on the pressure exerted by tyrosine kinase inhibitor by Vaidya, Shantashri, Vundinti, Babu Rao, Shanmukhaiah, Chandrakala, Chakrabarti, Prantar, Ghosh, Kanjaksha

“…Mutations in the ABL kinase domain and SH3-SH2 domain of the BCR/ABL gene and amplification of the Philadelphia chromosome are the two important BCR/ABL…”
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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients by Solanki, Avani, Mohanty, Purvi, Shukla, Pallavi, Rao, Anita, Ghosh, Kanjaksha, Vundinti, Babu Rao

“…Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA…”
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Nitric oxide synthase-2 (NOS2) gene polymorphism c.1832C>T (Ser608Leu) associated with nitrosative stress in Fanconi anaemia by George, Merin, Solanki, Avani, Mohanty, Purvi, Dhangar, Somprakash, Rajendran, Aruna, Mohan, Sheila, Vundinti, Babu Rao

“…Fanconi anemia (FA) occurs due to genomic instability with predisposition to bone marrow failure, phenotypic abnormalities and cancers. Though mutations in 22…”
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A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India by Donovan, Frank X., Solanki, Avani, Mori, Minako, Chavan, Niranjan, George, Merin, C, Selvaa Kumar, Okuno, Yusuke, Muramastsu, Hideki, Yoshida, Kenichi, Shimamoto, Akira, Takaori‐Kondo, Akifumi, Yabe, Hiromasa, Ogawa, Seishi, Kojima, Seiji, Yabe, Miharu, Ramanagoudr‐Bhojappa, Ramanagouda, Smogorzewska, Agata, Mohan, Sheila, Rajendran, Aruna, Auerbach, Arleen D., Takata, Minoru, Chandrasekharappa, Settara C., Vundinti, Babu Rao

“…Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, predisposition to cancer, and congenital abnormalities. FA is caused by…”
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Centrosome Aberration Frequency and Disease Association in B-Acute Lymphoblastic Leukemia by Kerketta, Lily S, Ghosh, Kanjaksha, Nadkarni, Anita, Madkaikar, Manisha, Vundinti, Babu Rao

“…Recent developments in genome-wide genetic analysis in B-acute lymphoblastic leukemia (B-ALL) have provided insight into disease pathogenesis and prognosis…”
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DNA interstrand cross-link repair: understanding role of Fanconi anemia pathway and therapeutic implications by Shukla, Pallavi, Solanki, Avani, Ghosh, Kanjaksha, Vundinti, Babu Rao

“…Interstrand cross‐links (ICLs) are extremely toxic DNA lesions that prevent DNA double‐helix separation due to the irreversible covalent linkage binding of…”
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Cytogenetic abnormalities in myelodysplastic syndrome: an overview by Kawankar, Nikesh, Vundinti, Babu Rao

“…The myelodysplastic syndromes (MDS) are clonal disorders of haematopoietic stem cells characterized by ineffective haematopoiesis leading to blood cytopenias…”
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Chromosomal aberrations in primary amenorrhea: A retrospective study by Korgaonkar, Seema, Dhangar, Somprakash, Kulkarni, Vinayak, Kerketta, Lily, Vundinti, Babu

“…Objectives: The aim of this study was to estimate the frequency of chromosomal abnormalities and establish the association with clinical of factors such as…”
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Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients by Shabrish, Snehal, Kelkar, Madhura, Chavan, Niranjan, Desai, Mukesh, Bargir, Umair, Gupta, Maya, Mehta, Priti, Chichra, Akanksha, S, Chandrakala, Taur, Prasad, Saxena, Vinay, Vundinti, Babu Rao, Madkaikar, Manisha

“…Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, short stature, and…”
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Methylation status of imprinted genes DLK1-GTL2 , MEST ( PEG1 ), ZAC ( PLAGL1 ), and  LINE-1 elements in spermatozoa of normozoospermic men, unlike H19 imprinting control regions, is not associated with idiopathic recurrent spontaneous miscarriages by Ankolkar, Mandar, M.Sc, Salvi, Vinita, M.D, Warke, Himangi, M.D, Vundinti, Babu Rao, Ph.D, Balasinor, N.H., Ph.D

“…Objective To study methylation aberrations in spermatozoa at developmentally important imprinted regions to ascertain their role in early embryo loss in…”
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