Search Results - "Hofstra, Robert M."

Mutation update on the CHD7 gene involved in CHARGE syndrome by Janssen, Nicole, Bergman, Jorieke E. H., Swertz, Morris A., Tranebjaerg, Lisbeth, Lodahl, Marianne, Schoots, Jeroen, Hofstra, Robert M. W., van Ravenswaaij-Arts, Conny M. A., Hoefsloot, Lies H.

“…CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling…”
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Histone Methyltransferase Gene SETD2 Is a Novel Tumor Suppressor Gene in Clear Cell Renal Cell Carcinoma by DUNS, Gerben, VAN DEN BERG, Eva, VAN DUIVENBODE, Inge, OSINGA, Jan, HOLLEMA, Harry, HOFSTRA, Robert M. W, KOK, Klaas

“…Sporadic clear cell renal cell carcinoma (cRCC) is genetically characterized by the recurrent loss of the short arm of chromosome 3, with a hotspot for copy…”
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Evidence based selection of housekeeping genes by de Jonge, Hendrik J M, Fehrmann, Rudolf S N, de Bont, Eveline S J M, Hofstra, Robert M W, Gerbens, Frans, Kamps, Willem A, de Vries, Elisabeth G E, van der Zee, Ate G J, te Meerman, Gerard J, ter Elst, Arja

“…For accurate and reliable gene expression analysis, normalization of gene expression data against housekeeping genes (reference or internal control genes) is…”
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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice by Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.

“…Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and…”
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The Role of Maternal-Fetal Cholesterol Transport in Early Fetal Life: Current Insights by BAARDMAN, Maria E, KERSTJENS-FREDERIKSE, Wilhelmina S, BERGER, Rolf M. F, BAKKER, Marian K, HOFSTRA, Robert M. W, PLÖSCH, Torsten

“…The importance of maternal cholesterol as an exogenous cholesterol source for the growing embryo was first reported in studies of Smith-Lemli-Opitz syndrome…”
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Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy by van Waning, Jaap I., Caliskan, Kadir, Hoedemaekers, Yvonne M., van Spaendonck-Zwarts, Karin Y., Baas, Annette F., Boekholdt, S. Matthijs, van Melle, Joost P., Teske, Arco J., Asselbergs, Folkert W., Backx, Ad P.C.M., du Marchie Sarvaas, Gideon J., Dalinghaus, Michiel, Breur, Johannes M.P.J., Linschoten, Marijke P.M., Verlooij, Laura A., Kardys, Isabella, Dooijes, Dennis, Lekanne Deprez, Ronald H., IJpma, Arne S., van den Berg, Maarten P., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Jongbloed, Jan D.H., Majoor-Krakauer, Danielle

“…The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an…”
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Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability by Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda

“…The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their…”
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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa by van den Akker, Peter C, Pasmooij, Anna M G, Joenje, Hans, Hofstra, Robert M W, Te Meerman, Gerard J, Jonkman, Marcel F

“…Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant…”
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Candidate driver genes in microsatellite-unstable colorectal cancer by Alhopuro, Pia, Sammalkorpi, Heli, Niittymäki, Iina, Biström, Mia, Raitila, Anniina, Saharinen, Juha, Nousiainen, Kari, Lehtonen, Heli J., Heliövaara, Elina, Puhakka, Jani, Tuupanen, Sari, Sousa, Sónia, Seruca, Raquel, Ferreira, Ana M., Hofstra, Robert M. W., Mecklin, Jukka-Pekka, Järvinen, Heikki, Ristimäki, Ari, Ørntoft, Torben F., Hautaniemi, Sampsa, Arango, Diego, Karhu, Auli, Aaltonen, Lauri A.

“…Defects in the mismatch repair system lead to microsatellite instability (MSI), a feature observed in ∼ 15% of all colorectal cancers (CRCs). Microsatellite…”
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RET as a Diagnostic and Therapeutic Target in Sporadic and Hereditary Endocrine Tumors by de Groot, Jan Willem B, Links, Thera P, Plukker, John T. M, Lips, Cornelis J. M, Hofstra, Robert M. W

“…The RET gene encodes a receptor tyrosine kinase that is expressed in neural crest-derived cell lineages. The RET receptor plays a crucial role in regulating…”
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Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy by van Waning, Jaap I., Caliskan, Kadir, Michels, Michelle, Schinkel, Arend F.L., Hirsch, Alexander, Dalinghaus, Michiel, Hoedemaekers, Yvonne M., Wessels, Marja W., IJpma, Arne S., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Majoor-Krakauer, Danielle

“…There is overlap in genetic causes and cardiac features in noncompaction cardiomyopathy (NCCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy…”
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White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies by Burns, Alan J., Goldstein, Allan M., Newgreen, Donald F., Stamp, Lincon, Schäfer, Karl-Herbert, Metzger, Marco, Hotta, Ryo, Young, Heather M., Andrews, Peter W., Thapar, Nikhil, Belkind-Gerson, Jaime, Bondurand, Nadege, Bornstein, Joel C., Chan, Wood Yee, Cheah, Kathryn, Gershon, Michael D., Heuckeroth, Robert O., Hofstra, Robert M.W., Just, Lothar, Kapur, Raj P., King, Sebastian K., McCann, Conor J., Nagy, Nandor, Ngan, Elly, Obermayr, Florian, Pachnis, Vassilis, Pasricha, Pankaj J., Sham, Mai Har, Tam, Paul, Vanden Berghe, Pieter

“…Over the last 20 years, there has been increasing focus on the development of novel stem cell based therapies for the treatment of disorders and diseases…”
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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development by Kuil, Laura E, MacKenzie, Katherine C, Tang, Clara S, Windster, Jonathan D, Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M, van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J, Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H, Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H, Alves, Maria M, Brooks, Alice S, Hofstra, Robert M. W, Brosens, Erwin

“…Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique…”
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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity by Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J, Menko, Fred H, Mensenkamp, Arjen R, Spaander, Manon C W, Wagner, Anja, Hofstra, Robert M W, Te Riele, Hein

“…Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR…”
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Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability by Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda

“…Innervation of the gut is segmentally lost in Hirschsprung disease (HSCR), a consequence of cell-autonomous and non-autonomous defects in enteric neuronal cell…”
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The Effects of Four Different Tyrosine Kinase Inhibitors on Medullary and Papillary Thyroid Cancer Cells by Verbeek, Hans H. G, Alves, Maria M, de Groot, Jan-Willem B, Osinga, Jan, Plukker, John T. M, Links, Thera P, Hofstra, Robert M. W

“…Tyrosine kinase inhibitor therapy for medullary and papillary thyroid carcinoma is mutation specific, with XL184 being the most potent inhibitor in MEN2A and…”
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Survival-related profile, pathways, and transcription factors in ovarian cancer by Crijns, Anne P G, Fehrmann, Rudolf S N, de Jong, Steven, Gerbens, Frans, Meersma, Gert Jan, Klip, Harry G, Hollema, Harry, Hofstra, Robert M W, te Meerman, Gerard J, de Vries, Elisabeth G E, van der Zee, Ate G J

“…Ovarian cancer has a poor prognosis due to advanced stage at presentation and either intrinsic or acquired resistance to classic cytotoxic drugs such as…”
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C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging by van Ham, Tjakko J, Thijssen, Karen L, Breitling, Rainer, Hofstra, Robert M W, Plasterk, Ronald H A, Nollen, Ellen A A

“…Inclusions in the brain containing alpha-synuclein are the pathological hallmark of Parkinson's disease, but how these inclusions are formed and how this links…”
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Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations by Sijmons, Rolf H., Hofstra, Robert M.W.

“…Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant…”
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Genetics of enteric neuropathies by Brosens, Erwin, Burns, Alan J., Brooks, Alice S., Matera, Ivana, Borrego, Salud, Ceccherini, Isabella, Tam, Paul K., García-Barceló, Maria-Mercè, Thapar, Nikhil, Benninga, Marc A., Hofstra, Robert M.W., Alves, Maria M.

“…Abnormal development or disturbed functioning of the enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal tract, is associated with…”
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