Search Results - "Jenkins, Zandra"

The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease by Baudier, Jacques, Jenkins, Zandra A, Robertson, Stephen P

“…During development, cycles of spatiotemporal remodeling of higher-order networks of actin filaments contribute to control cell fate specification and…”
Get full text

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development by Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P

“…Magdalena Götz, Stephen Robertson and colleagues show that biallelic mutations in DCHS1 and FAT4 cause a multisystem disorder that includes periventricular…”
Get full text

The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis by Wade, Emma M., Halliday, Benjamin J., Jenkins, Zandra A., O'Neill, Adam C., Robertson, Stephen P.

“…The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by variants in the gene FLNA. FLNA encodes the widely expressed actin…”
Get full text

The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice by Wade, Emma M, Goodin, Elizabeth A, Morgan, Tim, Pereira, Stephana, Woolley, Adele G, Jenkins, Zandra A, Daniel, Philip B, Robertson, Stephen P

“…The filamins are cytoskeletal binding proteins that dynamically crosslink actin into orthogonal networks or bundle it into stress fibres. The domain structure…”
Get full text

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival by Wade, Emma M., Morgan, Tim, Gimenez, Gregory, Jenkins, Zandra A., Titheradge, Hannah, O'Donnell, Marie, Skidmore, David, Suri, Mohnish, Robertson, Stephen P.

“…Pathogenic variants in FLNA cause a diversity of X‐linked developmental disorders associated with either preserved or diminished levels of filamin A protein…”
Get full text

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia by Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

“…Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is…”
Get full text

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration by O’Neill, Adam C., Kyrousi, Christina, Klaus, Johannes, Leventer, Richard J., Kirk, Edwin P., Fry, Andrew, Pilz, Daniela T., Morgan, Tim, Jenkins, Zandra A., Drukker, Micha, Berkovic, Samuel F., Scheffer, Ingrid E., Guerrini, Renzo, Markie, David M., Götz, Magdalena, Cappello, Silvia, Robertson, Stephen P.

“…The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has…”
Get full text

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia by Peng, Hui, Jenkins, Zandra A, White, Ruby, Connors, Sam, Hunter, Matthew F, Ronan, Anne, Zankl, Andreas, Markie, David M, Daniel, Philip B, Robertson, Stephen P

“…Abstract Context The WNT/β-catenin pathway is central to the pathogenesis of various human diseases including those affecting bone development and tumor…”
Get full text

RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape by Gay, Olivia, Gilquin, Benoît, Nakamura, Fumihiko, Jenkins, Zandra A, McCartney, Rosannah, Krakow, Deborah, Deshiere, Alexandre, Assard, Nicole, Hartwig, John H, Robertson, Stephen P, Baudier, Jacques

“…The intracellular localization and shape of the nucleus plays a central role in cellular and developmental processes. In fibroblasts, nuclear movement and…”
Get full text

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies by Jenkins, Zandra A, Macharg, Alison, Chang, Cheng‐Yee, Kogelenberg, Margriet, Morgan, Tim, Frentz, Sophia, Wei, Wenhua, Pilch, Jacek, Hannibal, Mark, Foulds, Nicola, McGillivray, George, Leventer, Richard J, García‐Miñaúr, Sixto, Sugito, Stuart, Nightingale, Scott, Markie, David M, Dudding, Tracy, Kapur, Raj P, Robertson, Stephen P

“…Loss‐of‐function mutations in the X‐linked gene FLNA can lead to abnormal neuronal migration, vascular and cardiac defects, and congenital intestinal…”
Get full text

Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia by Wade, Emma M., Jenkins, Zandra A., Morgan, Tim, Gimenez, Gregory, Gibson, Hayley, Peng, Hui, Sanchez Russo, Rossana, Skraban, Cara M., Bedoukian, Emma, Robertson, Stephen P.

“…Pathogenic variation in the X‐linked gene FLNA causes a wide range of human developmental phenotypes. Loss‐of‐function is usually male embryonic‐lethal, and…”
Get full text

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 by Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

“…Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in…”
Get full text

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis by Lacombe, Didier, David, Albert, Jeffs, Aaron, Bohring, Axel, Tchan, Michel, Wilson, Louise C, Pearl, Esther, Cormier-Daire, Valérie, Hing, Anne V, Adès, Lesley C, Stewart, Fiona, Porteous, Mary E, Garcia-Miñaur, Sixto, Robertson, Stephen P, Jenkins, Zandra A, Fukuzawa, Ryuji, Hennekam, Raoul C M, Morgan, Tim, Bindoff, Laurence, Donnai, Dian, Fiskerstrand, Torunn, Mansour, Sahar, Berland, Siren, Thaller, Christina, van Kogelenberg, Margriet

“…Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis. Here we demonstrate that germline…”
Get full text

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 by Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.

Get full text

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles by Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

Get full text

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype by Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Adés, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae‐Joon, de Geus, Christa M., Duba, Hans‐Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti‐Furga, Andrea, Veenstra‐Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.

“…Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA in approximately 50% of patients. Recently we characterized…”
Get full text

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype by Tiffin, Heather R., Jenkins, Zandra A., Gray, Mary J., Cameron-Christie, Sophia R., Eaton, Jennifer, Aftimos, Salim, Markie, David, Robertson, Stephen P.

“…Emery–Dreifuss muscular dystrophy (EDMD) is characterised by early-onset joint contractures, progressive muscular weakness and wasting and late-onset cardiac…”
Get full text

The male phenotype in osteopathia striata congenita with cranial sclerosis by Holman, Sarah K., Daniel, Phil, Jenkins, Zandra A., Herron, Rachel L., Morgan, Tim, Savarirayan, Ravi, Chow, C.W., Bohring, Axel, Mosel, Annette, Lacombe, Didier, Steiner, Bernhard, Schmitt-Mechelke, Thomas, Schroter, Barbara, Raas-Rothschild, Annick, Miñaur, Sixto Garcia, Porteous, Mary, Parker, Michael, Quarrell, Oliver, Tapon, Dagmar, Cormier-Daire, Valérie, Mansour, Sahar, Nash, Ruth, Bindoff, Laurence A., Fiskerstrand, Torunn, Robertson, Stephen P.

“…Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the…”
Get full text

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity by Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah

“…Frontometaphyseal dysplasia is an X‐linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of…”
Get full text

Human EIF5A2 on Chromosome 3q25–q27 Is a Phylogenetically Conserved Vertebrate Variant of Eukaryotic Translation Initiation Factor 5A with Tissue-Specific Expression by Jenkins, Zandra A., Hååg, Petra G., Johansson, Hans E.

“…Eukaryotic translation initiation factor 5A (eIF5A) is an essential protein tightly linked to cellular polyaminehomeostasis. It receives the unique…”
Get full text