Search Results - "Trump, Dorothy"

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population‐based study by GARG, SHRUTI, LEHTONEN, ANNUKKA, HUSON, SUSAN M, EMSLEY, RICHARD, TRUMP, DOROTHY, EVANS, D GARETH, GREEN, JONATHAN

“…Aim  To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and…”
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Differential Regulation of Elastic Fiber Formation by Fibulin-4 and -5 by Choudhury, Rawshan, McGovern, Amanda, Ridley, Caroline, Cain, Stuart A., Baldwin, Andrew, Wang, Ming-Chuan, Guo, Chun, Mironov, Aleksandr, Drymoussi, Zoe, Trump, Dorothy, Shuttleworth, Adrian, Baldock, Clair, Kielty, Cay M.

“…Fibulin-4 and -5 are extracellular glycoproteins with essential non-compensatory roles in elastic fiber assembly. We have determined how they interact with…”
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Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome by Gui, Junhong, Wang, Tao, Jones, Richard P O, Trump, Dorothy, Zimmer, Thomas, Lei, Ming

“…To identify molecular mechanisms underlying SCN5A-related sick sinus syndrome (SSS), a rare type of SSS, in parallel experiments we elucidated the…”
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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome by Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy

“…We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size…”
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Retinoschisin, a New Binding Partner for L-type Voltage-gated Calcium Channels in the Retina by Shi, Liheng, Jian, Kuihuan, Ko, Michael L., Trump, Dorothy, Ko, Gladys Y.-P.

“…The L-type voltage-gated calcium channels (L-VGCCs) are activated under high depolarization voltages. They are vital for diverse biological events, including…”
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Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa by Lotery, Andrew J., Baas, Dominique, Ridley, Caroline, Jones, Richard P.O., Klaver, Caroline C.W., Stone, Edwin, Nakamura, Tomoyuki, Luff, Andrew, Griffiths, Helen, Wang, Tao, Bergen, Arthur A.B., Trump, Dorothy

“…Age‐related macular degeneration (ARMD) is the leading cause of irreversible visual loss in the Western world, affecting approximately 25 million people…”
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Correction: Multiple Loss-of-Function Mechanisms Contribute to SCN5A-Related Familial Sick Sinus Syndrome by Gui, Junhong, Wang, Tao, Jones, Richard P. O., Trump, Dorothy, Zimmer, Thomas, Lei, Ming

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Fibulin 5 Forms a Compact Dimer in Physiological Solutions by Jones, Richard P.O., Wang, Ming-Chuan, Jowitt, Thomas A., Ridley, Caroline, Mellody, Kieran T., Howard, Marjorie, Wang, Tao, Bishop, Paul N., Lotery, Andrew J., Kielty, Cay M., Baldock, Clair, Trump, Dorothy

“…Fibulin 5 is a 52-kDa calcium-binding epidermal growth factor (cbEGF)-rich extracellular matrix protein that is essential for the formation of elastic tissues…”
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Identification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 Region by Montini, Eugenio, Andolfi, Grazia, Caruso, Antonio, Buchner, Georg, Walpole, Susannah M, Mariani, Margherita, Consalez, GianGiacomo, Trump, Dorothy, Ballabio, Andrea, Franco, Brunella

“…Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in the Xp22 region, we have…”
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Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence by LEHTONEN, ANNUKKA, HOWIE, EMMA, TRUMP, DOROTHY, HUSON, SUSAN M

“…Aim  This systematic review aimed to pull together the findings from research into behavioural systems and attention in children with neurofibromatosis type 1…”
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Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome by Liu, Xue-Zhong, Hope, Carolyn, Walsh, James, Newton, Valerie, Ke, Xiao Mei, Liang, Chuan Yu, Xu, Li Ron, Zhou, Jiu Mu, Trump, Dorothy, Steel, Karen P., Bundey, Sarah, Brown, Steve D.M.

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An overview of Notch3 function in vascular smooth muscle cells by Wang, Tao, Baron, Martin, Trump, Dorothy

“…Proteins of the Notch family are cell surface receptors that transduce signals between neighbouring cells. The Notch signalling pathway is highly…”
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease by Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.

“…Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure…”
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Cognition in children with neurofibromatosis type 1: data from a population‐based study by Lehtonen, Annukka, Garg, Shruti, Roberts, Stephen A, Trump, Dorothy, Evans, D Gareth, Green, Jonathan, Huson, Susan M

“…Aim This study aimed to investigate the core cognitive deficits in children with neurofibromatosis type 1 (NF1). Method The study recruited 49 children with…”
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Mutation-Specific Effects of Polymorphism H558R in SCN5A-Related Sick Sinus Syndrome by GUI, JUNHONG, WANG, TAO, TRUMP, DOROTHY, ZIMMER, THOMAS, LEI, MING

“…Effects of H558R on SSS‐Related Mutant Channels. Introduction: Mutations in SCN5A, the gene encoding α subunit of cardiac type sodium channel, Nav1.5, lead to…”
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Progress in defining the molecular biology of age related macular degeneration by LOTERY, Andrew, TRUMP, Dorothy

“…Age related macular degeneration (AMD) is an extremely prevalent complex genetic disorder. Its incidence rises exponentially in the elderly to a frequency of 1…”
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Mutations in theCACNA1F andNYX genes in British CSNBX families by Zito, Ilaria, Allen, Louise E., Patel, Reshma J., Meindl, Alfons, Bradshaw, Keith, Yates, John R., Bird, Alan C., Erskine, Lynda, Cheetham, Michael E., Webster, Andrew R., Poopalasundaram, Subathra, Moore, Anthony T., Trump, Dorothy, Hardcastle, Alison J.

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Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22 by Walpole, Susannah M., Hiriyana, Kelaginamane T., Nicolaou, Alexia, Bingham, Eve L., Durham, Jillian, Vaudin, Mark, Ross, Mark T., Yates, John R.W., Sieving, Paul A., Trump, Dorothy

“…We have identified a novel human gene during studies of a 1.3-Mb region of Xp22 between DXS418 and DXS999. A PAC contig spanning the region was constructed,…”
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X-linked retinoschisis: an update by Sikkink, Stephen K, Biswas, Susmito, Parry, Neil R A, Stanga, Paulo E, Trump, Dorothy

“…X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual…”
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Identification of SCML2, a Second Human Gene Homologous to theDrosophila Sex comb on midleg(Scm): A New Gene Cluster on Xp22 by Montini, Eugenio, Buchner, Georg, Spalluto, Cosma, Andolfi, Grazia, Caruso, Antonio, den Dunnen, Johan T., Trump, Dorothy, Rocchi, Mariano, Ballabio, Andrea, Franco, Brunella

“…We have identified a novel gene with homologies to theDrosophila Sex comb on midleg(Scm) gene from the short arm of the X chromosome.Scmis a member of the…”
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