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Editorial: understanding IBS pathophysiology through "converging channels" of research-authors' reply.

Madhusudan Grover, Antonio Berumen, Stephanie Peters, Ting Wei, Margaret Breen-Lyles, William S Harmsen, Irene Busciglio, Duane Burton, Maria Vazquez Roque, Kenneth R DeVault, Michael Camilleri, Michael Wallace, Surendra Dasari, Helmut Neumann, Lesley A Houghton,

Aliment Pharmacol Ther (Alimentary pharmacology & therapeutics)
[2021, 54(9):1215-1216]

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.

Jakub Sikora, Tereza Kmochová, Dita Mušálková, Michal Pohludka, Petr Přikryl, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Lenka Nosková, Lenka Mrázová, Viktor Stránecký, Mariia Lunová, Milan Jirsa, Eva Honsová, Surendra Dasari, Ellen D McPhail, Nelson Leung, Martina Živná, Anthony J Bleyer, Ivan Rychlík, Romana Ryšavá, Stanislav Kmoch,

Amyloid A amyloidosis is a serious clinical condition resulting from the systemic deposition of amyloid A originating from serum amyloid A proteins with the kidneys being the most commonly and earliest affected organ. Previously described amyloid A amyloidosis is linked to increased production and deposition of serum amyloid A proteins ... Read more >>

Kidney Int (Kidney international)
[2021, :]

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Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.

Vinaya Simha, Ian R Lanza, Surendra Dasari, Katherine A Klaus, Nathan Le Brasseur, Ivan Vuckovic, Marcello C Laurenti, Claudio Cobelli, John D Port, K Sreekumaran Nair,

<h4>Background</h4>Familial Partial Lipodystrophy (FPL), Dunnigan variety is characterized by skeletal muscle hypertrophy and insulin resistance besides fat loss from the extremities. The cause for the muscle hypertrophy, and its functional consequences is not known.<h4>Objective</h4>To compare muscle strength and endurance, besides muscle protein synthesis rate between subjects with FPL and matched ... Read more >>

J Clin Endocrinol Metab (The Journal of clinical endocrinology and metabolism)
[2021, :]

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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C Burrage, Björn U Christ, Jorge L Granadillo, Patricia Dickson, Kirsten A Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O'Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, , Eric Rush, Geoffrey S Pitt, Ping Yee Billie Au, Vandana Shashi,

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(10):2016]

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Somatostatin-derived amyloidosis: a novel type of amyloidosis associated with well-differentiated somatostatin-producing neuroendocrine tumours.

Benjamin J Van Treeck, Surendra Dasari, Paul J Kurtin, Jason D Theis, Samih H Nasr, Lizhi Zhang, Saba Yasir, Rondell P Graham, Ellen D McPhail, Samar Said,

<h4>Objective</h4>To report the clinicopathologic and proteomic characteristics of a novel form of amyloidosis derived from the precursor protein somatostatin.<h4>Materials and methods</h4>Cases were identified by searching the Mayo Clinic amyloid liquid chromatography and tandem mass spectrometry (LC-MS/MS) typing database from 1 January 2008 to 1 September 2020 for specimens with the ... Read more >>

Amyloid (Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis)
[2021, :1-6]

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The significance of gradient expression of chromosome region maintenance protein 1 (exportin1) in large cell lymphoma.

Jithma P Abeykoon, Paul J Hampel, Rebecca L King, Adam J Wood, Melissa C Larson, Kevin E Nowakowski, Saurabh S Zanwar, Surendra Dasari, Gordon J Ruan, Aishwarya Ravindran, Linda E Wellik, Jonas Paludo, Brian K Link, James R Cerhan, Stephen M Ansell, Grzegorz S Nowakowski, Carrie A Thompson, Matthew J Maurer, Kerstin Wenzl, Anne J Novak, Xiaosheng Wu, Thomas M Habermann, Thomas E Witzig,

Haematologica (Haematologica)
[2021, 106(8):2261-2264]

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Intestinal chemosensitivity in irritable bowel syndrome associates with small intestinal TRPV channel expression.

Madhusudan Grover, Antonio Berumen, Stephanie Peters, Ting Wei, Margaret Breen-Lyles, William S Harmsen, Irene Busciglio, Duane Burton, Maria Vazquez Roque, Kenneth R DeVault, Michael Camilleri, Michael Wallace, Surendra Dasari, Helmut Neumann, Lesley A Houghton,

<h4>Background</h4>Irritable bowel syndrome (IBS) patients often experience meal-associated symptoms. However, the underlying mechanisms are unclear.<h4>Aim</h4>To determine small intestinal mechanisms of lipid-induced symptoms and rectal hypersensitivity in IBS METHODS: We recruited 26 IBS patients (12 IBS-C, 14 IBS-D) and 15 healthy volunteers (HV). In vivo permeability was assessed using saccharide excretion ... Read more >>

Aliment Pharmacol Ther (Alimentary pharmacology & therapeutics)
[2021, 54(9):1179-1192]

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Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.

Jennefer N Kohler, Emily G Kelley, Brenna M Boyd, Catherine H Sillari, Shruti Marwaha, , Matthew T Wheeler,

Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2021, :]

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C Burrage, Björn U Christ, Jorge L Granadillo, Patricia Dickson, Kirsten A Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O'Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, , Eric Rush, Geoffrey S Pitt, Ping Yee Billie Au, Vandana Shashi,

<h4>Purpose</h4>CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.<h4>Methods</h4>We ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(10):1922-1932]

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MCIR1: A patient-derived mantle cell lymphoma line for discovering new treatments for ibrutinib resistance.

Xiaosheng Wu, Kevin E Nowakowski, Jithma P Abeykoon, Michelle Manske, Mary J Stenson, Michael M Timm, Curtis A Hanson, Daniel L Van Dyke, Surendra Dasari, Thomas E Witzig,

<h4>Background</h4>Despite the unprecedented success of ibrutinib in lymphoma therapy, the development of ibrutinib resistance due to acquired BTK or PLCγ2 mutations has become a new clinical problem. However, not all resistance is mediated by these mutations and these mechanisms are poorly understood due to a lack of study tools that ... Read more >>

Eur J Haematol (European journal of haematology)
[2021, 107(4):458-465]

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Belantamab mafodotin detection by MASS-FIX and immunofixation.

Patrick W Mellors, Mindy C Kohlhagen, Surendra Dasari, Maria A V Willrich, Morie A Gertz, Shaji K Kumar, Martha Q Lacy, David L Murray, Angela Dispenzieri,

Clin Chem Lab Med (Clinical chemistry and laboratory medicine)
[2021, 59(11):e430-e433]

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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Lauren C Briere, Melissa A Walker, Frances A High, Cynthia Cooper, Cassandra A Rogers, Christine J Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A Caruso, Nutan Sharma, Elly Brokamp, Mary E Koziura, Shekeeb S Mohammad, Russell C Dale, Lisa G Riley, , John A Phillips, Masaaki Komatsu, David A Sweetser,

Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in <i>UBA5</i>, a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with biallelic pathogenic variants in <i>UBA5</i> All five children presented with global developmental ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2021, 7(3):]

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Analytical sensitivity and specificity of four point of care rapid antigen diagnostic tests for SARS-CoV-2 using real-time quantitative PCR, quantitative droplet digital PCR, and a mass spectrometric antigen assay as comparator methods.

Brad S Karon, Leslie Donato, Amber R Bridgeman, Joseph H Blommel, Benjamin Kipp, Anthony Maus, Santosh Renuse, Jennifer Kemp, Anil K Madugundu, Patrick M Vanderboom, Sandip Chavan, Surendra Dasari, Ravinder J Singh, Stefan K G Grebe, Akhilesh Pandey,

<h4>Background</h4>We evaluated the analytical sensitivity and specificity of four rapid antigen diagnostic tests (Ag RDTs) for SARS-CoV-2, using reverse transcription quantitative PCR (RT-qPCR) as the reference method; and further characterizing samples using droplet digital quantitative PCR (ddPCR) and a mass spectrometric antigen test.<h4>Methods</h4>350 (150 negative and 200 RT-qPCR positive) residual ... Read more >>

Clin Chem (Clinical chemistry)
[2021, :]

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One is the loneliest number: genotypic matchmaking using the electronic health record.

Elly Brokamp, Mary E Koziura, John A Phillips, Leigh Anne Tang, Joy D Cogan, Lynette C Rives, Amy K Robertson, Laura Duncan, Anna Bican, Josh F Peterson, John H Newman, Rizwan Hamid, Lisa Bastarache, ,

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(10):1830-1832]

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Treatment of AL Amyloidosis: Mayo Stratification of Myeloma and Risk-Adapted Therapy (mSMART) Consensus Statement 2020 Update.

Eli Muchtar, Angela Dispenzieri, Morie A Gertz, Shaji K Kumar, Francis K Buadi, Nelson Leung, Martha Q Lacy, David Dingli, Sikander Ailawadhi, P Leif Bergsagel, Rafael Fonseca, Suzanne R Hayman, Prashant Kapoor, Martha Grogan, Omar F Abou Ezzeddine, Julie L Rosenthal, Michelle Mauermann, Mustaqueem Siddiqui, Wilson I Gonsalves, Taxiarchis V Kourelis, Jeremy T Larsen, Craig B Reeder, Rahma Warsame, Ronald S Go, David L Murray, Ellen D McPhail, Surendra Dasari, Dragan Jevremovic, Robert A Kyle, Yi Lin, John A Lust, Stephen J Russell, Yi Lisa Hwa, Amie L Fonder, Miriam A Hobbs, S Vincent Rajkumar, Vivek Roy, Taimur Sher,

Immunoglobulin light chain (AL) amyloidosis is a clonal plasma cell disorder leading to progressive and life-threatening organ failure. The heart and the kidneys are the most commonly involved organs, but almost any organ can be involved. Because of the nonspecific presentation, diagnosis delay is common, and many patients are diagnosed ... Read more >>

Mayo Clin Proc (Mayo Clinic proceedings)
[2021, 96(6):1546-1577]

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Correction: MASS-FIX for the detection of monoclonal proteins and light chain N-glycosylation in routine clinical practice: a cross-sectional study of 6315 patients.

Patrick W Mellors, Surendra Dasari, Mindy C Kohlhagen, Taxiarchis Kourelis, Ronald S Go, Eli Muchtar, Morie A Gertz, Shaji K Kumar, Francis K Buadi, Maria A V Willrich, John A Lust, Prashant Kapoor, Martha Q Lacy, David Dingli, Yi Hwa, Amie Fonder, Miriam Hobbs, Susan Hayman, Rahma Warsame, Nelson R Leung, Yi Lin, Wilson Gonsalves, Mustaqeem Siddiqui, Robert A Kyle, S Vincent Rajkumar, David L Murray, Angela Dispenzieri,

Blood Cancer J (Blood cancer journal)
[2021, 11(6):110]

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Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

Allyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, Rebecca C Spillmann, Heidi Cope, Queenie K-G Tan, Christina G S Palmer, , Stephen R Hooper, Vandana Shashi,

The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the ... Read more >>

J Genet Couns (Journal of genetic counseling)
[2021, :]

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Thomas A Ravenscroft, Jennifer B Phillips, Elizabeth Fieg, Sameer S Bajikar, Judy Peirce, Jeremy Wegner, Alia A Luna, Eric J Fox, Yi-Lin Yan, Jill A Rosenfeld, Jonathan Zirin, Oguz Kanca, , Paul J Benke, Eric S Cameron, Vincent Strehlow, Konrad Platzer, Rami Abou Jamra, Chiara Klöckner, Matthew Osmond, Thomas Licata, Samantha Rojas, David Dyment, Josephine S C Chong, Sharyn Lincoln, Joan M Stoler, John H Postlethwait, Michael F Wangler, Shinya Yamamoto, Joel Krier, Monte Westerfield, Hugo J Bellen,

<h4>Purpose</h4>Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, 23(10):1889-1900]

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Molecular profiling reveals a hypoxia signature in breast implant-associated anaplastic large cell lymphoma.

Naoki Oishi, Tanya Hundal, Jessica L Phillips, Surendra Dasari, Guangzhen Hu, David S Viswanatha, Rong He, Ming Mai, Hailey K Jacobs, Nada H Ahmed, Sergei I Syrbu, Youssef Salama, Jennifer R Chapman, Francisco Vega, Jagmohan Sidhu, Nora N Bennani, Alan L Epstein, Jeffrey L Medeiros, Mark W Clemens, Roberto N Miranda, Andrew L Feldman,

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a recently characterized T-cell malignancy that has raised significant patient safety concerns and led to worldwide impact on the implants used and clinical management of patients undergoing reconstructive or cosmetic breast surgery. Molecular signatures distinguishing BIA-ALCL from other ALCLs have not been ... Read more >>

Haematologica (Haematologica)
[2021, 106(6):1714-1724]

Cited: 1 time

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The Clinical Impact of Proteomics in Amyloid Typing.

Michelle M Hill, Surendra Dasari, Peter Mollee, Giampaolo Merlini, Catherine E Costello, Bouke P C Hazenberg, Martha Grogan, Angela Dispenzieri, Morie A Gertz, Taxiarchis Kourelis, Ellen D McPhail,

Mayo Clin Proc (Mayo Clinic proceedings)
[2021, 96(5):1122-1127]

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Striking Association of Lymphoid Enhancing Factor (LEF1) Overexpression and DUSP22 Rearrangements in Anaplastic Large Cell Lymphoma.

Aishwarya Ravindran, Andrew L Feldman, Rhett P Ketterling, Surendra Dasari, Karen L Rech, Ellen D McPhail, Paul J Kurtin, Min Shi,

Anaplastic large cell lymphomas (ALCLs) are broadly classified into ALK-positive and ALK-negative. ALK-negative ALCL is composed of DUSP22-rearranged, TP63-rearranged, and triple-negative cases. While lymphoid enhancer-binding factor (LEF1) plays a crucial role in T-cell maturation, limited data exist on its expression in T-cell lymphomas, including ALCL. We characterized the expression of ... Read more >>

Am J Surg Pathol (The American journal of surgical pathology)
[2021, 45(4):550-557]

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, , Eric Vilain, Vandana Shashi,

<h4>Background</h4>Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically-relevant SVs in a 4-year-old male with an epileptic encephalopathy of undiagnosed molecular origin.<h4>Methods</h4>OGM was utilized ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2021, 9(7):e1665]

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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Beattie R H Sturrock, Ellen F Macnamara, Peter McGuire, Shannon Kruk, Ivan Yang, Jennifer Murphy, , Cyndi J Tifft, Eliza Gordon-Lipkin,

<h4>Background</h4>Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2021, 9(6):e1692]

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

Dustin Baldridge, Michael F Wangler, Angela N Bowman, Shinya Yamamoto, , Tim Schedl, Stephen C Pak, John H Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J Bellen, Monte Westerfield,

Decreased sequencing costs have led to an explosion of genetic and genomic data. These data have revealed thousands of candidate human disease variants. Establishing which variants cause phenotypes and diseases, however, has remained challenging. Significant progress has been made, including advances by the National Institutes of Health (NIH)-funded Undiagnosed Diseases ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):206]

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Clinical Mass Spectrometry Approaches to Myeloma and Amyloidosis.

David L Murray, Surendra Dasari,

The diagnosis of myeloma and other plasma cell disorders has traditionally been done with the aid of electrophoretic methods, whereas amyloidosis has been characterized by immunohistochemistry. Mass spectrometry has recently been established as an alternative to these traditional methods and has been proved to bring added benefit for patient care. ... Read more >>

Clin Lab Med (Clinics in laboratory medicine)
[2021, 41(2):203-219]

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