Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features von Bonnefond, Amélie, Raimondo, Anne, Stutzmann, Fanny, Ghoussaini, Maya, Ramachandrappa, Shwetha, Bersten, David C, Durand, Emmanuelle, Vatin, Vincent, Balkau, Beverley, Lantieri, Olivier, Raverdy, Violeta, Pattou, François, Van Hul, Wim, Van Gaal, Luc, Peet, Daniel J, Weill, Jacques, Miller, Jennifer L, Horber, Fritz, Goldstone, Anthony P, Driscoll, Daniel J, Bruning, John B, Meyre, David, Whitelaw, Murray L, Froguel, Philippe

Volltext

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease von Rees, Matthew G, Davis, Mindy I, Shen, Min, Titus, Steve, Raimondo, Anne, Barrett, Amy, Gloyn, Anna L, Collins, Francis S, Simeonov, Anton

Volltext

Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism von Raimondo, Anne, Rees, Matthew G, Gloyn, Anna L

Volltext

Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells von Thomsen, Soren K., Raimondo, Anne, Hastoy, Benoit, Sengupta, Shahana, Dai, Xiao-Qing, Bautista, Austin, Censin, Jenny, Payne, Anthony J., Umapathysivam, Mahesh M., Spigelman, Aliya F., Barrett, Amy, Groves, Christopher J., Beer, Nicola L., Manning Fox, Jocelyn E., McCarthy, Mark I., Clark, Anne, Mahajan, Anubha, Rorsman, Patrik, MacDonald, Patrick E., Gloyn, Anna L.

Volltext

Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic [beta]-cells von Thomsen, Soren K, Raimondo, Anne, Hastoy, Benoit, Sengupta, Shahana, Dai, Xiao-Qing, Bautista, Austin, Censin, Jenny

Volltext

Rare variants in single-minded 1 (SIM1) are associated with severe obesity von Ramachandrappa, Shwetha, Raimondo, Anne, Cali, Anna M G, Keogh, Julia M, Henning, Elana, Saeed, Sadia, Thompson, Amanda, Garg, Sumedha, Bochukova, Elena G, Brage, Soren, Trowse, Victoria, Wheeler, Eleanor, Sullivan, Adrienne E, Dattani, Mehul, Clayton, Peter E, Datta, Vipan, Datta, Vippan, Bruning, John B, Wareham, Nick J, O'Rahilly, Stephen, Peet, Daniel J, Barroso, Ines, Whitelaw, Murray L, Farooqi, I Sadaf

Volltext

25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus von SENGUPTA, SHAHANA, BONNYCASTLE, LORI L., HASTOY, BENOIT, GROTZ, ANTJE, UMAPATHYSIVAM, MAHESH M., RAIMONDO, ANNE, SWIFT, AMY, CHINES, PETER S., CLARK, ANNE, HUOPIO, HANNA, COLLINS, FRANCIS S., LAAKSO, MARKKU, GLOYN, ANNA L.

Volltext

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability von Raimondo, Anne, Chakera, Ali J, Thomsen, Soren K, Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E, Van De Bunt, Martijn, Hattersley, Andrew T, Gloyn, Anna L, Ellard, Sian

Volltext

Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence von Zelent, Bogumil, Raimondo, Anne, Barrett, Amy, Buettger, Carol W, Chen, Pan, Gloyn, Anna L, Matschinsky, Franz M

Volltext

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families von Rees, Matthew G, Raimondo, Anne, Wang, Jian, Ban, Matthew R, Davis, Mindy I, Barrett, Amy, Ranft, Jessica, Jagdhuhn, David, Waterstradt, Rica, Baltrusch, Simone, Simeonov, Anton, Collins, Francis S, Hegele, Robert A, Gloyn, Anna L

Volltext

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay von Montagne, Louise, Raimondo, Anne, Delobel, Bruno, Duban‐Bedu, Bénédicte, Noblet, Fanny Stutzmann, Dechaume, Aurélie, Bersten, David C., Meyre, David, Whitelaw, Murray L., Froguel, Philippe, Bonnefond, Amélie

Volltext

Reclassification of Diabetes Etiology in a Family With Multiple Diabetes Phenotypes von Kavvoura, Fotini K, Raimondo, Anne, Thanabalasingham, Gayathiry, Barrett, Amy, Webster, Amanda L, Shears, Debbie, Mann, Nicholas P, Ellard, Sian, Gloyn, Anna L, Owen, Katharine R

Volltext

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay: SIM1 Mutations and Developmental Delay von Montagne, Louise, Raimondo, Anne, Delobel, Bruno, Duban-Bedu, Bénédicte, Noblet, Fanny Stutzmann, Dechaume, Aurélie, Bersten, David C., Meyre, David, Whitelaw, Murray L., Froguel, Philippe, Bonnefond, Amélie

Volltext

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2 von Sullivan, Adrienne E, Raimondo, Anne, Schwab, Tanja A, Bruning, John B, Froguel, Philippe, Farooqi, I Sadaf, Peet, Daniel J, Whitelaw, Murray L

Volltext

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis von Beer, Nicola L, Osbak, Kara K, van de Bunt, Martijn, Tribble, Nicholas D, Steele, Anna M, Wensley, Kirsty J, Edghill, Emma L, Colcough, Kevin, Barrett, Amy, Valentínová, Lucia, Rundle, Jana K, Raimondo, Anne, Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L

Volltext

Rare variants in single-minded 1 (SIM1) are associated with severe obesity von Ramachandrappa, Shwetha, Raimondo, Anne, Cali, Anna M.G., Keogh, Julia M., Henning, Elana, Saeed, Sadia, Thompson, Amanda, Garg, Sumedha, Bochukova, Elena G., Brage, Soren, Trowse, Victoria, Wheeler, Eleanor, Sullivan, Adrienne E., Dattani, Mehul, Clayton, Peter E., Datta, Vipan, Bruning, John B., Wareham, Nick J., O’Rahilly, Stephen, Peet, Daniel J., Barroso, Ines, Whitelaw, Murray L., Farooqi, I. Sadaf

Volltext

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identifitation and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis von BEER, Nicola L, OSBAK, Kara K, RUNDLE, Jana K, RAIMONDO, Anne, GRIMSBY, Joseph, ELLARD, Sian, GLOYN, Anna L, VAN DE BUNT, Martijn, TRIBBLE, Nicholas D, STEELE, Anna M, WENSLEY, Kirsty J, EDGHILL, Emma L, COLCOUGH, Kevin, BARRETT, Amy, VALENTINOVA, Lucia

Volltext

13-P100 Identification of target genes and coregulatory proteins of the obesity-related transcription factor Single-Minded 1 von Raimondo, Anne, Whitelaw, Murray

Volltext

A comparison of the antiepileptogenic efficacy of two rationally chosen multitargeted drug combinations in a rat model of posttraumatic epilepsy von Hameed, Mustafa Q., D’Ambrosio, Raimondo, Eastman, Cliff, Hui, Benjamin, Lin, Rui, Vermudez, Sheryl Anne D., Liebhardt, Amanda, Choe, Yongho, Klein, Pavel, Rundfeldt, Chris, Löscher, Wolfgang, Rotenberg, Alexander

Volltext

Amount of Asian lithospheric mantle subducted during the India/Asia collision von Replumaz, Anne, Guillot, Stéphane, Villaseñor, Antonio, Negredo, Ana M.

Volltext