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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97046-4
By:
- Yang, Chaozhe;
- Harafuji, Naoe;
- O'Connor, Amber K.;
- Kesterson, Robert A.;
- Watts, Jacob A.;
- Majmundar, Amar J.;
- Braun, Daniela A.;
- Lek, Monkol;
- Laricchia, Kristen M.;
- Fathy, Hanan M.;
- Mane, Shrikant;
- Shril, Shirlee;
- Hildebrandt, Friedhelm;
- Guay-Woodford, Lisa M.
Publication type:
Article
Genome-Wide Association Studies of Schizophrenia and Bipolar Disorder in a Diverse Cohort of US Veterans.
Published in:
Schizophrenia Bulletin, 2021, v. 47, n. 2, p. 517, doi. 10.1093/schbul/sbaa133
By:
- Bigdeli, Tim B;
- Fanous, Ayman H;
- Li, Yuli;
- Rajeevan, Nallakkandi;
- Sayward, Frederick;
- Genovese, Giulio;
- Gupta, Rishab;
- Radhakrishnan, Krishnan;
- Malhotra, Anil K;
- Sun, Ning;
- Lu, Qiongshi;
- Hu, Yiming;
- Li, Boyang;
- Chen, Quan;
- Mane, Shrikant;
- Miller, Perry;
- Cheung, Kei-Hoi;
- Gur, Raquel E;
- Greenwood, Tiffany A;
- Braff, David L
Publication type:
Article
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2513, doi. 10.1210/clinem/dgac076
By:
- Habiby, Reema;
- Bichet, Daniel G.;
- Arthus, Marie-Francoise;
- Connaughton, Dervia;
- Shril, Shirlee;
- Mane, Shrikant;
- Majmundar, Amar J.;
- Hildebrandt, Friedhelm;
- Robertson, Gary L.
Publication type:
Article
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Published in:
Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1833, doi. 10.1093/ndt/gfab253
By:
- Zheng, Bixia;
- Seltzsam, Steve;
- Wang, Chunyan;
- Schierbaum, Luca;
- Schneider, Sophia;
- Wu, Chen-Han Wilfred;
- Dai, Rufeng;
- Connaughton, Dervla M;
- Nakayama, Makiko;
- Mann, Nina;
- Stajic, Natasa;
- Mane, Shrikant;
- Bauer, Stuart B;
- Tasic, Velibor;
- Nam, Hyun Joo;
- Shril, Shirlee;
- Hildebrandt, Friedhelm
Publication type:
Article
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Published in:
eLife, 2016, p. 1, doi. 10.7554/eLife.20125
By:
- Timberlake, Andrew T.;
- Jungmin Choi;
- Zaidi, Samir;
- Qiongshi Lu;
- Nelson-Williams, Carol;
- Brooks, Eric D.;
- Bilguvar, Kaya;
- Tikhonova, Irina;
- Mane, Shrikant;
- Yang, Jenny F.;
- Sawh-Martinez, Rajendra;
- Persing, Sarah;
- Zellner, Elizabeth G.;
- Loring, Erin;
- Chuang, Carolyn;
- Galm, Amy;
- Hashim, Peter W.;
- Steinbacher, Derek M.;
- DiLuna, Michael L.;
- Duncan, Charles C.
Publication type:
Article
HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
Published in:
2023
By:
- Shapiro, Adam J.;
- Sillon, Guillaume;
- D'Agostino, Daniela;
- Baret, Laurence;
- López-Giráldez, Francesc;
- Mane, Shrikant;
- Leigh, Margaret W.;
- Davis, Stephanie D.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Letter to the Editor
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1944
By:
- Dong, Weilai;
- Kaymakcalan, Hande;
- Jin, Sheng Chih;
- Diab, Nicholas S.;
- Tanıdır, Cansaran;
- Yalcin, Ali Seyfi Yalim;
- Ercan‐Sencicek, A. Gulhan;
- Mane, Shrikant;
- Gunel, Murat;
- Lifton, Richard P.;
- Bilguvar, Kaya;
- Brueckner, Martina
Publication type:
Article
Genome‐wide association study of cognitive performance in U.S. veterans with schizophrenia or bipolar disorder.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 3, p. 181, doi. 10.1002/ajmg.b.32775
By:
- Harvey, Philip D.;
- Sun, Ning;
- Bigdeli, Tim B.;
- Fanous, Ayman H.;
- Aslan, Mihaela;
- Malhotra, Anil K.;
- Lu, Qiongshi;
- Hu, Yiming;
- Li, Boyang;
- Chen, Quan;
- Mane, Shrikant;
- Miller, Perry;
- Rajeevan, Nallakkandi;
- Sayward, Frederick;
- Cheung, Kei‐Hoi;
- Li, Yuli;
- Greenwood, Tiffany A.;
- Gur, Raquel E.;
- Braff, David L.;
- Brophy, Mary
Publication type:
Article
The genetics of functional disability in schizophrenia and bipolar illness: Methods and initial results for VA cooperative study #572.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 381, doi. 10.1002/ajmg.b.32242
By:
- Harvey, Philip D.;
- Siever, Larry J.;
- Huang, Grant D.;
- Muralidhar, Sumitra;
- Zhao, Hongyu;
- Miller, Perry;
- Aslan, Mihaela;
- Mane, Shrikant;
- McNamara, Margaret;
- Gleason, Theresa;
- Brophy, Mary;
- Przygodszki, Ronald;
- O'Leary, Timothy J.;
- Gaziano, Michael;
- Concato, John
Publication type:
Article
The Role of Genetic Markers— NAP1L1, MAGE-D2, and MTA1—in Defining Small-Intestinal Carcinoid Neoplasia.
Published in:
Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2006, v. 13, n. 2, p. 253, doi. 10.1245/ASO.2006.12.011
By:
- Kidd, Mark;
- Modlin, Irvin;
- Mane, Shrikant;
- Camp, Robert;
- Eick, Geeta;
- Latich, Igor
Publication type:
Article
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
By:
- Staretz‐Chacham, Orna;
- Shukrun, Rachel;
- Barel, Ortal;
- Pode‐Shakked, Ben;
- Pleniceanu, Oren;
- Anikster, Yair;
- Shalva, Nechama;
- Ferreira, Carlos R.;
- Ben‐Haim Kadosh, Admit;
- Richardson, Justin;
- Mane, Shrikant M.;
- Hildebrandt, Friedhelm;
- Vivante, Asaf
Publication type:
Article
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Published in:
2012
By:
- Bamshad, Michael J.;
- Shendure, Jay A.;
- Valle, David;
- Hamosh, Ada;
- Lupski, James R.;
- Gibbs, Richard A.;
- Boerwinkle, Eric;
- Lifton, Richard P.;
- Gerstein, Mark;
- Gunel, Murat;
- Mane, Shrikant;
- Nickerson, Deborah A.
Publication type:
Editorial
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Published in:
Nature Genetics, 2015, v. 47, n. 9, p. 996, doi. 10.1038/ng.3361
By:
- Lifton, Richard P;
- Cheng, Elaine;
- Halaban, Ruth;
- McCusker, James P;
- Ma, Shuangge;
- Sznol, Mario;
- Krauthammer, Michael;
- Serin, Merdan;
- Evans, Perry;
- Mane, Shrikant;
- Bacchiocchi, Antonella;
- Pornputtapong, Natapol;
- Narayan, Deepak;
- Kluger, Harriet M;
- Bosenberg, Marcus;
- Kong, Yong;
- Wu, Cen;
- Ariyan, Stephan;
- Schlessinger, Joseph;
- Straub, Robert
Publication type:
Article
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Published in:
Nature Genetics, 2015, v. 47, n. 5, p. 512, doi. 10.1038/ng.3278
By:
- Stuart, Bridget D;
- Garcia, Christine Kim;
- Choi, Jungmin;
- Zaidi, Samir;
- Ji, Weizhen;
- Xing, Chao;
- Choi, Mihwa;
- Holohan, Brody;
- Shay, Jerry W;
- Chen, Rui;
- Dharwadkar, Pooja;
- Torres, Fernando;
- Girod, Carlos E;
- Weissler, Jonathan;
- Fitzgerald, John;
- Kershaw, Corey;
- Klesney-Tait, Julia;
- Mageto, Yolanda;
- Bilguvar, Kaya;
- Mane, Shrikant
Publication type:
Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Published in:
Nature Genetics, 2013, v. 45, n. 9, p. 1050, doi. 10.1038/ng.2695
By:
- Scholl, Ute I;
- Goh, Gerald;
- Stölting, Gabriel;
- de Oliveira, Regina Campos;
- Choi, Murim;
- Overton, John D;
- Fonseca, Annabelle L;
- Korah, Reju;
- Starker, Lee F;
- Kunstman, John W;
- Prasad, Manju L;
- Hartung, Erum A;
- Mauras, Nelly;
- Benson, Matthew R;
- Brady, Tammy;
- Shapiro, Jay R;
- Loring, Erin;
- Nelson-Williams, Carol;
- Libutti, Steven K;
- Mane, Shrikant
Publication type:
Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
By:
- Lemaire, Mathieu;
- Frémeaux-Bacchi, Véronique;
- Schaefer, Franz;
- Choi, Murim;
- Tang, Wai Ho;
- Le Quintrec, Moglie;
- Fakhouri, Fadi;
- Taque, Sophie;
- Nobili, François;
- Martinez, Frank;
- Ji, Weizhen;
- Overton, John D;
- Mane, Shrikant M;
- Nürnberg, Gudrun;
- Altmüller, Janine;
- Thiele, Holger;
- Morin, Denis;
- Deschenes, Georges;
- Baudouin, Véronique;
- Llanas, Brigitte
Publication type:
Article
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 321, doi. 10.1038/ng.787
By:
- Gharavi, Ali G.;
- Kiryluk, Krzysztof;
- Murim Choi;
- Yifu Li;
- Ping Hou;
- Jingyuan Xie;
- Sanna-Cherchi, Simone;
- Men, Clara J.;
- Julian, Bruce A.;
- Wyatt, Robert J.;
- Novak, Jan;
- He, John C.;
- Haiyan Wang;
- Jicheng Lv;
- Li Zhu;
- Weiming Wang;
- Zhaohui Wang;
- Yasuno, Kasuhito;
- Gunel, Murat;
- Mane, Shrikant
Publication type:
Article
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1472, doi. 10.1038/ng.240
By:
- Bilguvar, Kaya;
- Yasuno, Katsuhito;
- Niemelä, Mika;
- Ruigrok, Ynte M.;
- von und zu Fraunberg, Mikael;
- van Duijn, Cornelia M.;
- van den Berg, Leonard H.;
- Mane, Shrikant;
- Mason, Christopher E.;
- Choi, Murim;
- Gaál, Emília;
- Bayri, Yasar;
- Kolb, Luis;
- Arlier, Zulfikar;
- Ravuri, Sudhakar;
- Ronkainen, Antti;
- Tajima, Atsushi;
- Laakso, Aki;
- Hata, Akira;
- Kasuya, Hidetoshi
Publication type:
Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Published in:
2015
By:
- Juhlin, C Christofer;
- Goh, Gerald;
- Healy, James M;
- Fonseca, Annabelle L;
- Scholl, Ute I;
- Stenman, Adam;
- Kunstman, John W;
- Brown, Taylor C;
- Overton, John D;
- Mane, Shrikant M;
- Nelson-Williams, Carol;
- Bäckdahl, Martin;
- Suttorp, Anna-Carinna;
- Haase, Matthias;
- Choi, Murim;
- Schlessinger, Joseph;
- Rimm, David L;
- Höög, Anders;
- Prasad, Manju L;
- Korah, Reju
Publication type:
journal article
Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 12, p. 645, doi. 10.1002/gcc.22678
By:
- Dong, Weilai;
- Nicolson, Norman G.;
- Choi, Jungmin;
- Barbieri, Andrea L.;
- Kunstman, John W.;
- Abou Azar, Sara;
- Knight, James;
- Bilguvar, Kaya;
- Mane, Shrikant M.;
- Lifton, Richard P.;
- Korah, Reju;
- Carling, Tobias
Publication type:
Article
Utility of promoter hypermethylation in malignant risk stratification of intraductal papillary mucinous neoplasms.
Published in:
Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01429-5
By:
- Chhoda, Ankit;
- Sharma, Anup;
- Sailo, Bethsebie;
- Tang, Haoyu;
- Ruzgar, Nensi;
- Tan, Wan Ying;
- Ying, Lee;
- Khatri, Rishabh;
- Narayanan, Anand;
- Mane, Shrikant;
- De Kumar, Bony;
- Wood, Laura D.;
- Iacobuzio-Donahue, Christine;
- Wolfgang, Christopher L.;
- Kunstman, John W.;
- Salem, Ronald R.;
- Farrell, James J.;
- Ahuja, Nita
Publication type:
Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
By:
- Chaste, Pauline;
- Sanders, Stephan J.;
- Mohan, Kommu N.;
- Klei, Lambertus;
- Song, Youeun;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Willsey, A. Jeremy;
- Moreno‐De‐Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.
Publication type:
Article
DNA Methylation Assessed by SMRT Sequencing Is Linked to Mutations in Neisseria meningitidis Isolates.
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144612
By:
- Sater, Mohamad R. Abdul;
- Lamelas, Araceli;
- Wang, Guilin;
- Clark, Tyson A.;
- Röltgen, Katharina;
- Mane, Shrikant;
- Korlach, Jonas;
- Pluschke, Gerd;
- Schmid, Christoph D.
Publication type:
Article
RNA-Seq Profiling of Spinal Cord Motor Neurons from a Presymptomatic SOD1 ALS Mouse.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053575
By:
- Bandyopadhyay, Urmi;
- Cotney, Justin;
- Nagy, Maria;
- Sunghee Oh;
- Jing Leng;
- Mahajan, Milind;
- Mane, Shrikant;
- Fenton, Wayne A.;
- Noonan, James P.;
- Horwich, Arthur L.
Publication type:
Article
Gene Network Inference and Biochemical Assessment Delineates GPCR Pathways and CREB Targets in Small Intestinal Neuroendocrine Neoplasia.
Published in:
PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022457
By:
- Drozdov, Ignat;
- Svejda, Bernhard;
- Gustafsson, Bjorn I.;
- Mane, Shrikant;
- Pfragner, Roswitha;
- Kidd, Mark;
- Modlin, Irvin M.
Publication type:
Article
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01116-5
By:
- Ullah, Ihsan;
- Ottlewski, Isabel;
- Shehzad, Wasim;
- Riaz, Amjad;
- Ijaz, Sadaqat;
- Tufail, Asad;
- Ammara, Hafiza;
- Mane, Shrikant;
- Shril, Shirlee;
- Hildebrandt, Friedhelm;
- Zahoor, Muhammad Yasir;
- Majmundar, Amar J.
Publication type:
Article
Non-invasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 10, p. E1, doi. 10.1164/rccm.201408-1440oc
By:
- Xiting Yan;
- Jen-Hwa Chu;
- Gomez, Jose;
- Koenigs, Maria;
- Holm, Carole;
- Xiaoxuan He;
- Perez, Mario F.;
- Hongyu Zhao;
- Mane, Shrikant;
- Martinez, Fernando D.;
- Ober, Carole;
- Nicolae, Dan L.;
- Barnes, Kathleen C.;
- London, Stephanie J.;
- Gilliland, Frank;
- Weiss, Scott T.;
- Raby, Benjamin A.;
- Cohn, Lauren;
- Chupp, Geoffrey L.
Publication type:
Article
Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 10, p. 1116, doi. 10.1164/rccm.201408-1440OC
By:
- Xiting Yan;
- Jen-Hwa Chu;
- Gomez, Jose;
- Koenigs, Maria;
- Holm, Carole;
- Xiaoxuan He;
- Perez, Mario F.;
- Hongyu Zhao;
- Mane, Shrikant;
- Martinez, Fernando D.;
- Ober, Carole;
- Nicolae, Dan L.;
- Barnes, Kathleen C.;
- London, Stephanie J.;
- Gilliland, Frank;
- Weiss, Scott T.;
- Raby, Benjamin A.;
- Cohn, Lauren;
- Chupp, Geoffrey L.
Publication type:
Article
RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determination.
Published in:
Genes, Chromosomes & Cancer, 1990, v. 2, n. 1, p. 71, doi. 10.1002/gcc.2870020113
By:
- Mane, Shrikant M.;
- Meltzer, Stephen J.;
- Gutheil, John C.;
- Kapil, Vikram;
- Lee, Edward J.;
- Needleman, Samuel W.
Publication type:
Article
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Published in:
Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4
By:
- Kitzler, Thomas M.;
- Schneider, Ronen;
- Kohl, Stefan;
- Kolvenbach, Caroline M.;
- Connaughton, Dervla M.;
- Dai, Rufeng;
- Mann, Nina;
- Nakayama, Makiko;
- Majmundar, Amar J.;
- Wu, Chen-Han W.;
- Kari, Jameela A.;
- El Desoky, Sherif M.;
- Senguttuvan, Prabha;
- Bogdanovic, Radovan;
- Stajic, Natasa;
- Valivullah, Zaheer;
- Lek, Monkol;
- Mane, Shrikant;
- Lifton, Richard P.;
- Tasic, Velibor
Publication type:
Article
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 165, doi. 10.1038/ejhg.2014.82
By:
- Ercan-Sencicek, A Gulhan;
- Jambi, Samira;
- Franjic, Daniel;
- Nishimura, Sayoko;
- Li, Mingfeng;
- El-Fishawy, Paul;
- Morgan, Thomas M;
- Sanders, Stephan J;
- Bilguvar, Kaya;
- Suri, Mohnish;
- Johnson, Michele H;
- Gupta, Abha R;
- Yuksel, Zafer;
- Mane, Shrikant;
- Grigorenko, Elena;
- Picciotto, Marina;
- Alberts, Arthur S;
- Gunel, Murat;
- Šestan, Nenad;
- State, Matthew W
Publication type:
Article
Microarray results: how accurate are they?
Published in:
BMC Bioinformatics, 2002, v. 3, p. 1
By:
- Kothapalli, Ravi;
- Yoder, Sean J.;
- Mane, Shrikant;
- Loughran Jr., Thomas P.
Publication type:
Article
Early Life Stress Inhibits Expression of a Novel Innate Immune Pathway in the Developing Hippocampus.
Published in:
Neuropsychopharmacology, 2012, v. 37, n. 2, p. 567, doi. 10.1038/npp.2011.239
By:
- Wei, Lan;
- Simen, Arthur;
- Mane, Shrikant;
- Kaffman, Arie
Publication type:
Article
KARMA: a web server application for comparing and annotating heterogeneous microarray platforms.
Published in:
Nucleic Acids Research, 2004, v. 32, n. suppl 2, p. w441, doi. 10.1093/nar/gkh397
By:
- Cheung, Kei-Hoi;
- Hager, Janet;
- Pan, Deyun;
- Srivastava, Ranjana;
- Mane, Shrikant;
- Li, Yuli;
- Miller, Perry;
- Williams, Kenneth R.
Publication type:
Article
Common genetic variants, acting additively, are a major source of risk for autism.
Published in:
Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
By:
- Klei, Lambertus;
- Sanders, Stephan J.;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Jeremy Willsey, A.;
- Moreno-De-Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Christa Lese;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.;
- Melhem, Nadine M.;
- Chaste, Pauline
Publication type:
Article
Small bowel carcinoid (enterochromaffin cell) neoplasia exhibits transforming growth factor-beta1-mediated regulatory abnormalities including up-regulation of C-Myc and MTA1.
Published in:
2007
By:
- Kidd, Mark;
- Modlin, Irvin M.;
- Pfragner, Roswitha;
- Eick, Geeta N.;
- Champaneria, Manish C.;
- Chan, Anthony K.;
- Camp, Robert L.;
- Mane, Shrikant M.
Publication type:
journal article
Utility of molecular genetic signatures in the delineation of gastric neoplasia.
Published in:
2006
By:
- Kidd, Mark;
- Modlin, Irvin M;
- Mane, Shrikant M;
- Camp, Robert L;
- Eick, Geeta N;
- Latich, Igor;
- Zikusoka, Michelle N
Publication type:
journal article
Utility of molecular genetic signatures in the delineation of gastric neoplasia.
Published in:
Cancer (0008543X), 2006, v. 106, n. 7, p. 1480
By:
- Mark Kidd;
- Irvin M. Modlin;
- Shrikant M. Mane;
- Robert L. Camp;
- Geeta N. Eick;
- Igor Latich;
- Michelle N. Zikusoka
Publication type:
Article
Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors.
Published in:
Cancer (0008543X), 2005, v. 103, n. 2, p. 229
By:
- Mark Kidd;
- Geeta Eick;
- Michael D. Shapiro;
- Robert L. Camp;
- Shrikant M. Mane;
- Irvin M. Modlin
Publication type:
Article
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Published in:
2017
By:
- Besse, Whitney;
- Dong, Ke;
- Choi, Jungmin;
- Punia, Sohan;
- Fedeles, Sorin V;
- Choi, Murim;
- Gallagher, Anna-Rachel;
- Huang, Emily B;
- Gulati, Ashima;
- Knight, James;
- Mane, Shrikant;
- Tahvanainen, Esa;
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Publication type:
journal article
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Published in:
2017
By:
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- Tahvanainen, Pia;
- Sanna-Cherchi, Simone;
- Lifton, Richard P.;
- Watnickw, Terry;
- Pei, York P.;
- Torres, Vicente E.;
- Somlo, Stefan;
- Dong, Ke
Publication type:
journal article
Aquaporin-4 is increased in the sclerotic hippocampus in human temporal lobe epilepsy.
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Acta Neuropathologica, 2004, v. 108, n. 6, p. 493, doi. 10.1007/s00401-004-0910-7
By:
- Tih Shih Lee;
- Eid, Tore;
- Mane, Shrikant;
- Kim, Jung H.;
- Spencer, Dennis D.;
- Ottersen, Ole Petter;
- De Lanerolle, Nihal C.
Publication type:
Article
Study of the effect of preparation parameters on thermal conductivity of metal oxide nanofluids using Taguchi method.
Published in:
Journal of Energy Systems, 2021, v. 5, n. 2, p. 149, doi. 10.30521/jes.872530
By:
- Mane, Nikhil Shrikant;
- Hemadri, Vadiraj
Publication type:
Article
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 4, p. 1149, doi. 10.1038/jid.2013.430
By:
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- Teng, Joyce;
- Craiglow, Brittany G;
- Loring, Erin C;
- Burrow, T Andrew;
- Mane, Shrikant S;
- Overton, John D;
- Lifton, Richard P;
- McNiff, Jennifer M;
- Lucky, Anne W;
- Choate, Keith A
Publication type:
Article
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 827, doi. 10.1038/jid.2012.379
By:
- Levinsohn, Jonathan L;
- Tian, Li C;
- Boyden, Lynn M;
- McNiff, Jennifer M;
- Narayan, Deepak;
- Loring, Erin S;
- Yun, Duri;
- Sugarman, Jeffrey L;
- Overton, John D;
- Mane, Shrikant M;
- Lifton, Richard P;
- Paller, Amy S;
- Wagner, Annette M;
- Antaya, Richard J;
- Choate, Keith A
Publication type:
Article
Characterization of the DNA Copy-Number Genome in the Blood of Cutaneous T-Cell Lymphoma Patients.
Published in:
Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 188, doi. 10.1038/jid.2011.254
By:
- Lin, William M;
- Lewis, Julia M;
- Filler, Renata B;
- Modi, Badri G;
- Carlson, Kacie R;
- Reddy, Swapna;
- Thornberg, Adam;
- Saksena, Gordon;
- Umlauf, Sheila;
- Oberholzer, Patrick A;
- Karpova, Maria;
- Getz, Gad;
- Mane, Shrikant;
- Garraway, Levi A;
- Dummer, Reinhard;
- Berger, Carole L;
- Edelson, Richard L;
- Girardi, Michael
Publication type:
Article
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Published in:
Pediatric Nephrology, 2019, v. 34, n. 9, p. 1607, doi. 10.1007/s00467-019-04256-0
By:
- Vivante, Asaf;
- Chacham, Orna Staretz;
- Shril, Shirlee;
- Schreiber, Ruth;
- Mane, Shrikant M.;
- Pode-Shakked, Ben;
- Soliman, Neveen A.;
- Koneth, Irene;
- Schiffer, Mario;
- Anikster, Yair;
- Hildebrandt, Friedhelm
Publication type:
Article
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749
By:
- Kunstman, John W.;
- Juhlin, C. Christofer;
- Goh, Gerald;
- Brown, Taylor C.;
- Stenman, Adam;
- Healy, James M.;
- Rubinstein, Jill C.;
- Choi, Murim;
- Kiss, Nimrod;
- Nelson-Williams, Carol;
- Mane, Shrikant;
- Rimm, David L.;
- Prasad, Manju L.;
- Höög, Anders;
- Zedenius, Jan;
- Larsson, Catharina;
- Korah, Reju;
- Lifton, Richard P.;
- Carling, Tobias
Publication type:
Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
By:
- Lim, Young H.;
- Ovejero, Diana;
- Sugarman, Jeffrey S.;
- DeKlotz, Cynthia M.C.;
- Maruri, Ann;
- Eichenfield, Lawrence F.;
- Kelley, Patrick K.;
- Jüppner, Harald;
- Gottschalk, Michael;
- Tifft, Cynthia J.;
- Gafni, Rachel I.;
- Boyce, Alison M.;
- Cowen, Edward W.;
- Bhattacharyya, Nisan;
- Guthrie, Lori C.;
- Gahl, William A.;
- Golas, Gretchen;
- Loring, Erin C.;
- Overton, John D.;
- Mane, Shrikant M.
Publication type:
Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Published in:
Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
By:
- Boyden, Lynn M.;
- Choi, Murim;
- Choate, Keith A.;
- Nelson-Williams, Carol J.;
- Farhi, Anita;
- Toka, Hakan R.;
- Tikhonova, Irina R.;
- Bjornson, Robert;
- Mane, Shrikant M.;
- Colussi, Giacomo;
- Lebel, Marcel;
- Gordon, Richard D.;
- Semmekrot, Ben A.;
- Poujol, Alain;
- Välimäki, Matti J.;
- De Ferrari, Maria E.;
- Sanjad, Sami A.;
- Gutkin, Michael;
- Karet, Fiona E.;
- Tucci, Joseph R.
Publication type:
Article

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