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1.

Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.

Kwan, Kenneth Y; Lam, Mandy M S; Johnson, Matthew B; Dube, Umber; Shim, Sungbo; Rasin, Mladen-Roko; Sousa, André M M; Fertuzinhos, Sofia; Chen, Jie-Guang; Arellano, Jon I; Chan, Daniel W; Pletikos, Mihovil; Vasung, Lana; Rowitch, David H; Huang, Eric J; Schwartz, Michael L; Willemsen, Rob; Oostra, Ben A; Rakic, Pasko; Heffer, Marija; Kostovic, Ivica; Judas, Milos; Sestan, Nenad.

Cell ; 149(4): 899-911, 2012 May 11.

Artigo em Inglês | MEDLINE | ID: mdl-22579290

2.

CSMD1 regulates brain complement activity and circuit development.

Baum, Matthew L; Wilton, Daniel K; Fox, Rachel G; Carey, Alanna; Hsu, Yu-Han H; Hu, Ruilong; Jäntti, Henna J; Fahey, Jaclyn B; Muthukumar, Allie K; Salla, Nikkita; Crotty, William; Scott-Hewitt, Nicole; Bien, Elizabeth; Sabatini, David A; Lanser, Toby B; Frouin, Arnaud; Gergits, Frederick; Håvik, Bjarte; Gialeli, Chrysostomi; Nacu, Eugene; Lage, Kasper; Blom, Anna M; Eggan, Kevin; McCarroll, Steven A; Johnson, Matthew B; Stevens, Beth.

Brain Behav Immun ; 119: 317-332, 2024 Mar 27.

Artigo em Inglês | MEDLINE | ID: mdl-38552925

3.

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.

Johnson, Matthew B; Sun, Xingshen; Kodani, Andrew; Borges-Monroy, Rebeca; Girskis, Kelly M; Ryu, Steven C; Wang, Peter P; Patel, Komal; Gonzalez, Dilenny M; Woo, Yu Mi; Yan, Ziying; Liang, Bo; Smith, Richard S; Chatterjee, Manavi; Coman, Daniel; Papademetris, Xenophon; Staib, Lawrence H; Hyder, Fahmeed; Mandeville, Joseph B; Grant, P Ellen; Im, Kiho; Kwak, Hojoong; Engelhardt, John F; Walsh, Christopher A; Bae, Byoung-Il.

Nature ; 556(7701): 370-375, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29643508

4.

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Wyatt, Rebecca C; Olek, Sven; De Franco, Elisa; Samans, Bjoern; Patel, Kashyap; Houghton, Jayne; Walter, Steffi; Schulze, Janika; Bacchetta, Rosa; Hattersley, Andrew T; Flanagan, Sarah E; Johnson, Matthew B.

J Clin Immunol ; 43(3): 662-669, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36600150

5.

Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Globa, Evgenia; Zelinska, Nataliya; Johnson, Matthew B; Flanagan, Sarah E; De Franco, Elisa.

Diabet Med ; 40(5): e15013, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36398453

6.

SavvyCNV: Genome-wide CNV calling from off-target reads.

Laver, Thomas W; De Franco, Elisa; Johnson, Matthew B; Patel, Kashyap A; Ellard, Sian; Weedon, Michael N; Flanagan, Sarah E; Wakeling, Matthew N.

PLoS Comput Biol ; 18(3): e1009940, 2022 03.

Artigo em Inglês | MEDLINE | ID: mdl-35294448

7.

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel, Kashyap A; Ozbek, Mehmet N; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Atar, Muge; Colclough, Kevin; Houghton, Jayne; Johnson, Matthew B; Ellard, Sian; Flanagan, Sarah E; Cizmecioglu, Filiz; Berberoglu, Merih; Demir, Korcan; Catli, Gonul; Bas, Serpil; Akcay, Teoman; Demirbilek, Huseyin; Weedon, Michael N; Hattersley, Andrew T.

Diabetologia ; 65(2): 336-342, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34686905

8.

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt, Rebecca C; Hagopian, William A; Roep, Bart O; Patel, Kashyap A; Resnick, Brittany; Dobbs, Rebecca; Hudson, Michelle; De Franco, Elisa; Ellard, Sian; Flanagan, Sarah E; Hattersley, Andrew T; Oram, Richard A; Johnson, Matthew B.

Diabetologia ; 65(7): 1179-1184, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35501400

9.

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.

Hewat, Thomas I; Laver, Thomas W; Houghton, Jayne A L; Männistö, Jonna M E; Alvi, Sabah; Brearey, Stephen P; Cody, Declan; Dastamani, Antonia; De Los Santos La Torre, Miguel; Murphy, Nuala; Rami-Merhar, Birgit; Wefers, Birgit; Huopio, Hanna; Banerjee, Indraneel; Johnson, Matthew B; Flanagan, Sarah E.

Pediatr Diabetes ; 23(4): 457-461, 2022 06.

Artigo em Inglês | MEDLINE | ID: mdl-35294086

10.

An Ultrahigh-Affinity Complement C4b-Specific Nanobody Inhibits In Vivo Assembly of the Classical Pathway Proconvertase.

Zarantonello, Alessandra; Presumey, Jessy; Simoni, Léa; Yalcin, Esra; Fox, Rachel; Hansen, Annette; Olesen, Heidi Gytz; Thiel, Steffen; Johnson, Matthew B; Stevens, Beth; Laursen, Nick Stub; Carroll, Michael C; Andersen, Gregers R.

J Immunol ; 205(6): 1678-1694, 2020 09 15.

Artigo em Inglês | MEDLINE | ID: mdl-32769120

11.

A Complement C3-Specific Nanobody for Modulation of the Alternative Cascade Identifies the C-Terminal Domain of C3b as Functional in C5 Convertase Activity.

Pedersen, Henrik; Jensen, Rasmus K; Jensen, Jens Magnus B; Fox, Rachel; Pedersen, Dennis V; Olesen, Heidi G; Hansen, Annette G; Christiansen, Dorte; Mazarakis, Sofia M M; Lojek, Neal; Hansen, Pernille; Gadeberg, Trine A F; Zarantonello, Alessandra; Laursen, Nick S; Mollnes, Tom Eirik; Johnson, Matthew B; Stevens, Beth; Thiel, Steffen; Andersen, Gregers R.

J Immunol ; 205(8): 2287-2300, 2020 10 15.

Artigo em Inglês | MEDLINE | ID: mdl-32938727

12.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Iacovazzo, Donato; Flanagan, Sarah E; Walker, Emily; Quezado, Rosana; de Sousa Barros, Fernando Antonio; Caswell, Richard; Johnson, Matthew B; Wakeling, Matthew; Brändle, Michael; Guo, Min; Dang, Mary N; Gabrovska, Plamena; Niederle, Bruno; Christ, Emanuel; Jenni, Stefan; Sipos, Bence; Nieser, Maike; Frilling, Andrea; Dhatariya, Ketan; Chanson, Philippe; de Herder, Wouter W; Konukiewitz, Björn; Klöppel, Günter; Stein, Roland; Korbonits, Márta; Ellard, Sian.

Proc Natl Acad Sci U S A ; 115(5): 1027-1032, 2018 01 30.

Artigo em Inglês | MEDLINE | ID: mdl-29339498

13.

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.

Johnson, Matthew B; Patel, Kashyap A; De Franco, Elisa; Hagopian, William; Killian, Michael; McDonald, Timothy J; Tree, Timothy I M; Domingo-Vila, Clara; Hudson, Michelle; Hammersley, Suzanne; Dobbs, Rebecca; Ellard, Sian; Flanagan, Sarah E; Hattersley, Andrew T; Oram, Richard A.

Diabetologia ; 63(12): 2605-2615, 2020 12.

Artigo em Inglês | MEDLINE | ID: mdl-33029656

14.

Direct analysis of surface chemicals using vibrating sharp-edge spray ionization mass spectrometry.

Ranganathan, Nandhini; Lozier, Austin M; Rawson, Michael C; Johnson, Matthew B; Li, Peng.

Rapid Commun Mass Spectrom ; 34(20): e8902, 2020 Oct 30.

Artigo em Inglês | MEDLINE | ID: mdl-32692897

15.

More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition.

Johnson, Matthew B; Hattersley, Andrew T; Patel, Kashayp A.

N Engl J Med ; 384(1): 93, 2021 01 07.

Artigo em Inglês | MEDLINE | ID: mdl-33406351

16.

Terahertz generation by optical rectification in chalcopyrite crystals ZnGeP₂, CdGeP₂ and CdSiP₂.

Piyathilaka, Herath P; Sooriyagoda, Rishmali; Dewasurendra, Vikum; Johnson, Matthew B; Zawilski, Kevin T; Schunemann, Peter G; Bristow, Alan D.

Opt Express ; 27(12): 16958-16965, 2019 Jun 10.

Artigo em Inglês | MEDLINE | ID: mdl-31252913

17.

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Johnson, Matthew B; Cerosaletti, Karen; Flanagan, Sarah E; Buckner, Jane H.

Curr Diab Rep ; 19(5): 20, 2019 03 19.

Artigo em Inglês | MEDLINE | ID: mdl-30888520

18.

Pruning hypothesis comes of age.

Johnson, Matthew B; Stevens, Beth.

Nature ; 554(7693): 438-439, 2018 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-32094942

19.

Pruning hypothesis comes of age.

Johnson, Matthew B; Stevens, Beth.

Nature ; 554(7693): 438-439, 2018 02 22.

Artigo em Inglês | MEDLINE | ID: mdl-29469125

20.

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Johnson, Matthew B; Patel, Kashyap A; De Franco, Elisa; Houghton, Jayne A L; McDonald, Timothy J; Ellard, Sian; Flanagan, Sarah E; Hattersley, Andrew T.

Diabetologia ; 61(4): 862-869, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29417186

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Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.

CSMD1 regulates brain complement activity and circuit development.

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

SavvyCNV: Genome-wide CNV calling from off-target reads.

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.

An Ultrahigh-Affinity Complement C4b-Specific Nanobody Inhibits In Vivo Assembly of the Classical Pathway Proconvertase.

A Complement C3-Specific Nanobody for Modulation of the Alternative Cascade Identifies the C-Terminal Domain of C3b as Functional in C5 Convertase Activity.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.

Direct analysis of surface chemicals using vibrating sharp-edge spray ionization mass spectrometry.

More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition.

Terahertz generation by optical rectification in chalcopyrite crystals ZnGeP₂, CdGeP₂ and CdSiP₂.

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Pruning hypothesis comes of age.

Pruning hypothesis comes of age.

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.