Search Results - "HOLLANDER, S"

The short-chain fatty acid propionate increases glucagon and FABP4 production, impairing insulin action in mice and humans by Tirosh, Amir, Calay, Ediz S, Tuncman, Gurol, Claiborn, Kathryn C, Inouye, Karen E, Eguchi, Kosei, Alcala, Michael, Rathaus, Moran, Hollander, Kenneth S, Ron, Idit, Livne, Rinat, Heianza, Yoriko, Qi, Lu, Shai, Iris, Garg, Rajesh, Hotamisligil, Gökhan S

“…The short-chain fatty acid propionate is a potent inhibitor of molds that is widely used as a food preservative and endogenously produced by gut microbiota…”
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The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening by Sacharow, S., Zhu, E., Hollander, S.

“…Those diagnosed with PKU in the early years of newborn screening (NBS) were often discharged from clinic in childhood. Long-term lost to clinic patients may be…”
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Pharmacological characterization of allosteric modulators: A case for chemokine receptors by Hollander, Lisa S., IJzerman, Adriaan P., Heitman, Laura H.

“…Chemokine receptors are relevant targets for a multitude of immunological diseases, but drug attrition for these receptors is remarkably high. While many drug…”
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Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development by Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris

“…Plasmacytoid dendritic cells (PDCs) represent a unique immune cell type specialized in type I interferon (IFN) secretion in response to viral nucleic acids…”
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome by Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein

“…Gijs Santen and colleagues report mutations in the SWI/SNF subunit gene ARID1B in Coffin-Siris syndrome. We identified de novo truncating mutations in ARID1B…”
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Dietary alpha linolenic acid in pregnant mice and during weaning increases brain docosahexaenoic acid and improves recognition memory in the offspring by Leikin-Frenkel, Alicia, Liraz-Zaltsman, Sigal, Hollander, Kenneth S., Atrakchi, Dana, Ravid, Orly, Rand, Daniel, Kandel-Kfir, Michal, Israelov, Hila, Cohen, Hofit, Kamari, Yehuda, Shaish, Aviv, Harats, Dror, Schnaider-Beeri, Michal, Cooper, Itzik

“…Docosahexaenoic acid (DHA) is critical for normal brain development and function. DHA is in danger of being significantly reduced in the human food supply, and…”
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care by de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.

“…Purpose Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic…”
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Headers and concussions in elite female and male football: a pilot study by den Hollander, S, Gouttebarge, V

“…\r\nBackground:\r\nHeading is a risk factor for neurogenerative disease in football. However, the exposure to heading in elite football training is…”
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Impact of High- vs. Low-Frequency Surveillance Endomyocardial Biopsy Strategy in Pediatric Heart Transplantation by Duong, S., Hall, M., Hollander, S.A., Thurm, C., Bernstein, D., Feingold, B.D., Godown, J., Almond, C.

“…Routine surveillance biopsy (RSB) is performed to monitor for asymptomatic acute rejection (AR) after heart transplantation (HT). The optimal frequency of RSB…”
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Outcomes of Heart and Combined Heart-Liver Transplant in Pediatric Fontan Patients by Chen, S., Bensen, R., Profita, E., McDonald, N., Lui, G., Haeffele, C., Rosenthal, D.N., Bernstein, D., Maeda, K., Concepcion, W., Hollander, S.

“…While combined heart-liver transplant (HLT) is being performed for Fontan patients, outcomes and indications remain poorly defined. We compared listing…”
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Waitlist Mortality in US Children Listed for Heart Transplant - Where are We Now? by Power, A., Sweat, K.R., Hollander, S.A., Schmidt, J., Dykes, J.C., Profita, E.L., Bernstein, D., Almond, C.S.

“…Studies suggest that pediatric heart transplant (HT) waitlist mortality has declined. The impact of factors such as heart allocation system refinements,…”
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Heightened Immune Response and Increased Risk of Infections in Pediatric Fontan Patients after Heart Transplantation by Ahmed, H., Lee, J., Profita, E., Dykes, J., Hollander, S., Kaufman, B., Bernstein, D., Rosenthal, D.N., Barkoff, L., Lee, D., Chen, S.

“…Infectious complications are a major cause of morbidity & mortality after heart transplantation (HT). Patients who have undergone Fontan palliation may have a…”
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Taking a Closer Look at Distance: Does Increasing the Maximal Donor Distance Range Shorten Waitlist Times in Pediatric Heart Transplant Candidates? by Barkoff, L.M., Dykes, J.C., Maeda, K., Hollander, S.A., Rosenthal, D., Kaufman, B.D., Profita, E., Wujcik, K., Almond, C.S.

“…Data suggest that pediatric heart transplant (HT) centers can reduce waitlist time by expanding donor catchment via expanded parameters including the maximal…”
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Conversion from Compounded Liquid Prograf to Prograf Granules - Lessons Learned from Our Early Experience by McDonald, N., Lee, J., Gonzales, S., Hollander, S.A., Rosenthal, D.N., Wujcik, K., Rosenberg, M., Profita, E., Almond, C.

“…In June 2018, the US Food and Drug Administration approved Prograf granules for pediatric solid-organ heart transplant without a US trial. This was due to…”
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The TEAMMATE Trial: Study Design and Rationale of the First Pediatric Heart Transplant Randomized Clinical Trial by Almond, C., Sleeper, L.A., Rossano, J.W., Pahl, E., Lal, A.K., Castleberry, C.D., Lee, J., Hollander, S., Klein, G., Barkoff, L.M., Bock, M., Fenton, M., Daly, K.P.

“…Currently there are no-FDA approved immunosuppressants specific to pediatric heart transplantation (HT). In recent years, everolimus (EVL) has emerged as an…”
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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients by Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A

“…Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an…”
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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B by Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I

“…Halgren C, Kjaergaard S, Bak M, Hansen C, El‐Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp…”
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Pediatric Heart Transplantation: Transitioning to Adult Care by Pahl, E, Van't Hof, K, Andrei, A, Shankel, T, Chinnock, R, Miyamoto, S, Ambardekar, A, Addonizio, L, Latif, F, Lefkowitz, D, Goldberg, L, Hollander, S, Pham, M, Grady, K

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Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis by Vos, Yvonne J, de Walle, Hermien E K, Bos, Krista K, Stegeman, Jenneke A, Ten Berge, Annelies M, Bruining, Martijn, van Maarle, Merel C, Elting, Mariet W, den Hollander, Nicolette S, Hamel, Ben, Fortuna, Ana Maria, Sunde, Lone E M, Stolte-Dijkstra, Irene, Schrander-Stumpel, Connie T R M, Hofstra, Robert M W

“…To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM…”
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EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction by de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I M, Janzing, Joost G E, de Leeuw, Nicole, Veenstra-Knol, Hermine E, den Hollander, Nicolette S, van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske

“…Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism…”
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