Search Results - "Patton, Michael A."

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome by Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra Q Y, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H

“…Andrew Crosby, David Silver and colleagues show that a partially inactivating mutation in MFSD2A causes a non-lethal microcephaly syndrome with symptoms that…”
Get full text

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration by Tsaousidou, Maria K., Ouahchi, Karim, Warner, Tom T., Yang, Yi, Simpson, Michael A., Laing, Nigel G., Wilkinson, Philip A., Madrid, Ricardo E., Patel, Heema, Hentati, Faycal, Patton, Michael A., Hentati, Afif, Lamont, Philippa J., Siddique, Teepu, Crosby, Andrew H.

“…The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by…”
Get full text

A restricted spectrum of NRAS mutations causes Noonan syndrome by Gelb, Bruce D, Gremer, Lothar, Digilio, Cristina, Dentici, Maria L, Roberts, Amy E, Zampino, Giuseppe, Kratz, Christian P, Dallapiccola, Bruno, Mazzanti, Laura, Stuppia, Liborio, Pantaleoni, Francesca, Ahmadian, Mohammad R, Zenker, Martin, Lepri, Francesca, Kutsche, Kerstin, Silengo, Margherita Cirillo, Joshi, Victoria A, König, Rainer, Carta, Claudio, Horn, Denise, Merbitz-Zahradnik, Torsten, Pennacchio, Len A, Mundlos, Stefan, Tartaglia, Marco, Dvorsky, Radovan, Wittinghofer, Alfred, Cirstea, Ion C, Seemanova, Eva, Patton, Michael A, Rossi, Cesare, Kucherlapati, Raju S

“…Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is…”
Get full text

Hypomorphic PCNA mutation underlies a human DNA repair disorder by Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M, Crosby, Andrew H

“…Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes…”
Get full text

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) by Dick, Katherine J, Eckhardt, Matthias, Paisán-Ruiz, Coro, Alshehhi, Aisha Alkhayat, Proukakis, Christos, Sibtain, Naomi A, Maier, Helena, Sharifi, Reza, Patton, Michael A, Bashir, Wafa, Koul, Roshan, Raeburn, Sandy, Gieselmann, Volkmar, Houlden, Henry, Crosby, Andrew H

“…Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is…”
Get full text

Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome by Tartaglia, Marco, Mehler, Ernest L, Goldberg, Rosalie, Zampino, Giuseppe, Brunner, Han G, Kremer, Hannie, van der Burgt, Ineke, Crosby, Andrew H, Ion, Andra, Jeffery, Steve, Kalidas, Kamini, Patton, Michael A, Kucherlapati, Raju S, Gelb, Bruce D

“…Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most…”
Get full text

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice by Muggenthaler, Martina M A, Chowdhury, Biswajit, Hasan, S Naimul, Cross, Harold E, Mark, Brian, Harlalka, Gaurav V, Patton, Michael A, Ishida, Miho, Behr, Elijah R, Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L, Alkuraya, Fowzan S, Crosby, Andrew H, Triggs-Raine, Barbara, Chioza, Barry A

“…Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken…”
Get full text

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures by Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.

“…The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate…”
Get full text

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity by Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., van der Burgt, Ineke, Brunner, Han G., Bertola, Débora R., Crosby, Andrew, Ion, Andra, Kucherlapati, Raju S., Jeffery, Steve, Patton, Michael A., Gelb, Bruce D.

“…Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently…”
Get full text

SLITRK6 mutations cause myopia and deafness in humans and mice by Tekin, Mustafa, Chioza, Barry A, Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E, Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L, Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S, Foster, 2nd, Joseph, Cengiz, F Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B, Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A, Young, Juan I, Aruga, Jun, Crosby, Andrew H

“…Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an…”
Get full text

3D analysis of facial morphology by Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Campbell, Linda E., Hennekam, Raoul C.M., Holden, Sean, Patton, Michael A., Shaw, Adam, Temple, I. Karen, Trotter, Matthew, Murphy, Kieran C., Winter, Robin M.

“…Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models…”
Get full text

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 by Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M

“…The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of…”
Get full text

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia by Ciccarelli, Francesca D, Proukakis, Christos, Patel, Heema, Cross, Harold, Azam, Shakil, Patton, Michael A, Bork, Peer, Crosby, Andrew H

“…Multiple sequence alignment has revealed the presence of a sequence domain of ∼80 amino acids in two molecules, spartin and spastin, mutated in hereditary…”
Get full text

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome by Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, Patton, Michael A., Sorcini, Mariella, van der Burgt, Ineke, Jeffery, Steve, Gelb, Bruce D.

“…Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a…”
Get full text

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis by Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H

“…Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly…”
Get full text

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging by Jeffries, Aaron R, Maroofian, Reza, Salter, Claire G, Chioza, Barry A, Cross, Harold E, Patton, Michael A, Dempster, Emma, Temple, I Karen, Mackay, Deborah J G, Rezwan, Faisal I, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F, Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H, Baple, Emma L

“…Germline mutations in fundamental epigenetic regulatory molecules including DNA methyltransferase 3 alpha ( ) are commonly associated with growth disorders,…”
Get full text

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment by Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E, Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V, Simpson, Michael A, Rich, Philip, Al-Salmi, Fatema, Patton, Michael A, Chioza, Barry A, Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G, Pucci, Piero, Houlden, Henry, Lupski, James R, Crosby, Andrew H, Baple, Emma L

“…PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression…”
Get full text

Loss of PCLO function underlies pontocerebellar hypoplasia type III by Ahmed, Mustafa Y, Chioza, Barry A, Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L, Patton, Michael A, Al-Memar, Ali Y, Hurles, Matthew E, Partlow, Jennifer N, Hill, R Sean, Evrony, Gilad D, Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A, Crosby, Andrew H, Mochida, Ganeshwaran H

“…OBJECTIVE:To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). METHODS:We studied the original reported pedigree of PCH3 and performed…”
Get full text

Mutation of HERC2 causes developmental delay with Angelman-like features by Harlalka, Gaurav V, Baple, Emma L, Cross, Harold, Kühnle, Simone, Cubillos-Rojas, Monica, Matentzoglu, Konstantin, Patton, Michael A, Wagner, Karin, Coblentz, Roselyn, Ford, Debra L, Mackay, Deborah J G, Chioza, Barry A, Scheffner, Martin, Rosa, Jose Luis, Crosby, Andrew H

“…Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin…”
Get more information

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase by Crosby, Andrew H, Simpson, Michael A, Cross, Harold, Proukakis, Christos, Priestman, David A, Neville, David C A, Reinkensmeier, Gabriele, Wang, Heng, Wiznitzer, Max, Gurtz, Kay, Verganelaki, Argyro, Pryde, Anna, Patton, Michael A, Dwek, Raymond A, Butters, Terry D, Platt, Frances M

“…We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. Assuming a founder…”
Get full text