Search Results - "Smeets, Hubert J.M."

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells by Otten, Auke B.C., Theunissen, Tom E.J., Derhaag, Josien G., Lambrichs, Ellen H., Boesten, Iris B.W., Winandy, Marie, van Montfoort, Aafke P.A., Tarbashevich, Katsiaryna, Raz, Erez, Gerards, Mike, Vanoevelen, Jo M., van den Bosch, Bianca J.C., Muller, Marc, Smeets, Hubert J.M.

“…We studied the mtDNA bottleneck in zebrafish to elucidate size, timing, and variation in germline and non-germline cells. Mature zebrafish oocytes contain, on…”
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Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1) by Wilde, Arthur A.M, Jongbloed, Rosalie J.E, Doevendans, Pieter A, Düren, Donald R, Hauer, Richard N.W, van Langen, Irene M, van Tintelen, J.Peter, Smeets, Hubert J.M, Meyer, Henk, Geelen, Jan L.M.C

“…Objective This study was performed to identify a possible relationship between genotype and phenotype in the congenital familial long QT syndrome (cLQTS)…”
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Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options by Gerards, Mike, Sallevelt, Suzanne C.E.H., Smeets, Hubert J.M.

“…Leigh syndrome is a progressive neurodegenerative disorder, affecting 1 in 40,000 live births. Most patients present with symptoms between the ages of three…”
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Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys by Smeets, Hubert J.M

“…Abstract Mitochondrial disorders represent the most common group of inborn errors of metabolism. Clinical manifestations can be extremely variable, ranging…”
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Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients by Braida, Claudia, Stefanatos, Rhoda K.A., Adam, Berit, Mahajan, Navdeep, Smeets, Hubert J.M., Niel, Florence, Goizet, Cyril, Arveiler, Benoit, Koenig, Michel, Lagier-Tourenne, Clotilde, Mandel, Jean-Louis, Faber, Catharina G., de Die-Smulders, Christine E.M., Spaans, Frank, Monckton, Darren G.

“…Myotonic dystrophy type 1 (DM1) is one of the most variable inherited human disorders. It is characterized by the involvement of multiple tissues and is caused…”
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No association between TGF-β1 polymorphisms and radiation-induced lung toxicity in a European cohort of lung cancer patients by Voets, An M, Oberije, Cary, Struijk, Robin B, Reymen, Bart, Ruyck, Kim De, Thierens, Hubert, Vandecasteele, Katrien, Neve, Wilfried De, Houben, Ruud, Ruysscher, Dirk De, Smeets, Hubert J.M, Lambin, Philippe

“…Abstract This study aimed at validating the previously published association between TGF-β1 single nucleotide polymorphisms and a reduced risk for…”
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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing by Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD

“…Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all…”
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Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study by Haast, Roy A.M., Ivanov, Dimo, IJsselstein, Rutger J.T., Sallevelt, Suzanne C.E.H., Jansen, Jacobus F.A., Smeets, Hubert J.M., de Coo, Irenaeus F.M., Formisano, Elia, Uludağ, Kâmil

“…One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to…”
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Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association by Martherus, Ruben S.R.M., Sluiter, Willem, Timmer, Erika D.J., VanHerle, Sabina J.V., Smeets, Hubert J.M., Ayoubi, Torik A.Y.

“…►Discussion on tissue specific characteristics of mitochondrial genes. ►Predict gene function through ‘guilt by association’. ►Experimental confirmation of…”
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Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation by Verstraeten, Valerie L.R.M., Broers, Jos L.V., van Steensel, Maurice A.M., Zinn-Justin, Sophie, Ramaekers, Frans C.S., Steijlen, Peter M., Kamps, Miriam, Kuijpers, Helma J.H., Merckx, Diane, Smeets, Hubert J.M., Hennekam, Raoul C.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur

“…LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical…”
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Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation by Vydt, Tom C.G., MD, de Coo, René F.M., MD, PhD, Soliman, Osama I.I., MD, ten Cate, Folkert J., MD, PhD, van Geuns, Robert-Jan M., MD, PhD, Vletter, Wim B., BSc, Schoonderwoerd, Kees, PhD, van den Bosch, Bianca J.C., PhD, Smeets, Hubert J.M., PhD, Geleijnse, Marcel L., MD, PhD

“…Cardiac data in adults with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS syndrome) or asymptomatic gene carriers with the…”
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Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation by Van Der Loop, Frank T.L., Heidet, Laurence, Timmer, Erika D.J., Van Den Bosch, Bianca J.C., Leinonen, Anu, Antignac, Corinne, Jefferson, J. Ashley, Maxwell, A. Peter, Monnens, Leo A.H., Schröder, Cornelis H., Smeets, Hubert J.M.

“…Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder,…”
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Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin by Van Der Loop, Frank T.L., Monnens, Leo A.H., Schröder, Cornelis H., Lemmink, Henny H., Breuning, Martijn H., Timmer, Erika D.J., Smeets, Hubert J.M.

“…Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. The COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is…”
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Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing by Otten, Auke B C, Smeets, Hubert J M

“…The endosymbiosis of an alpha-proteobacterium and a eubacterium a billion years ago paved the way for multicellularity and enabled eukaryotes to flourish. The…”
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Reproductive options in mitochondrial disease by Smeets, Hubert J M, Sallevelt, Suzanne C E H, Herbert, Mary

“…Mitochondrial diseases require customized approaches for reproductive counseling, addressing differences in recurrence risks and reproductive options. The…”
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Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy by Labau, Julie I R, Estacion, Mark, Tanaka, Brian S, de Greef, Bianca T A, Hoeijmakers, Janneke G J, Geerts, Margot, Gerrits, Monique M, Smeets, Hubert J M, Faber, Catharina G, Merkies, Ingemar S J, Lauria, Giuseppe, Dib-Hajj, Sulayman D, Waxman, Stephen G

“…Small fibre neuropathy is a common pain disorder, which in many cases fails to respond to treatment with existing medications. Gain-of-function mutations of…”
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Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight by Mertens, Joke, Belva, Florence, van Montfoort, Aafke P. A., Regin, Marius, Zambelli, Filippo, Seneca, Sara, Couvreu de Deckersberg, Edouard, Bonduelle, Maryse, Tournaye, Herman, Stouffs, Katrien, Barbé, Kurt, Smeets, Hubert J. M., Van de Velde, Hilde, Sermon, Karen, Blockeel, Christophe, Spits, Claudia

“…Children conceived through assisted reproductive technologies (ART) have an elevated risk of lower birthweight, yet the underlying cause remains unclear. Our…”
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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans by Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

“…Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic…”
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Mutation-specific effects in germline transmission of pathogenic mtDNA variants by Otten, Auke B C, Sallevelt, Suzanne C E H, Carling, Phillippa J, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Paulussen, Aimee D C, de Die-Smulders, Christine E M, Herbert, Mary, Chinnery, Patrick F, Samuels, David C, Lindsey, Patrick, Smeets, Hubert J M

“…Abstract STUDY QUESTION Does germline selection (besides random genetic drift) play a role during the transmission of heteroplasmic pathogenic mitochondrial…”
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? by Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

“…Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing…”
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