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1

Autoimmune Diabetes Mellitus with Adult Onset and Type 1 Diabetes Mellitus in Children Have Different Genetic Predispositions

MARIE CERNA, KATARINA KOLOSTOVA, PETER NOVOTA, MARIANNA ROMZOVA, PAVLINA CEJKOVA, DANIELA PINTEROVA, STEPANKA PRUHOVA, LUDMILA TRESLOVA, MICHAL ANDEL

Journal:

Annals of the New York Academy of Sciences

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

2

Further evidence that mutations inINScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

Trine W Boesgaard, Stepanka Pruhova, Ehm A Andersson, Ondrej Cinek, Barbora Obermannova, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Le

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 275 KB

english, 2010

3

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

E. R. Pearson, S. Pruhova, C. J. Tack, A. Johansen, H. A. J. Castleden, P. J. Lumb, A. S. Wierzbicki, P. M. Clark, J. Lebl, O. Pedersen, S. Ellard, T. Hansen, A. T. Hattersley

Journal:

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

4

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents

E. Feigerlová, Š. Pruhová, L. Dittertová, J. Lebl, D. Pinterová, K. Kološtová, M. Černá, O. Pedersen, T. Hansen

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 170 KB

english, 2006

5

Six novel mutations in the GCK gene in MODY patients

D Pinterova, J Ek, K Kolostova, S Pruhova, P Novota, M Romzova, E Feigerlova, M Cerna, J Lebl, O Pedersen, T Hansen

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 63 KB

english, 2007

6

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1

Lucie Gonsorčíková, Štěpánka Průhová, Ondrej Cinek, Jakob Ek, Terezie Pelikánová, Torben Jørgensen, Hans Eiberg, Oluf Pedersen, Torben Hansen, Jan Lebl

Journal:

Pediatric Diabetes

Year:

2008

Language:

english

File:

PDF, 97 KB

english, 2008

7

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Stepanka Pruhova, Petra Dusatkova, Zdenek Sumnik, Stanislava Kolouskova, Oluf Pedersen, Torben Hansen, Ondrej Cinek, Jan Lebl

Journal:

Pediatric Diabetes

Year:

2010

Language:

english

File:

PDF, 558 KB

english, 2010

8

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

Lucie Gonsorcikova, Martine Vaxillaire, Stepanka Pruhova, Aurélie Dechaume, Petra Dusatkova, Ondrej Cinek, Oluf Pedersen, Philippe Froguel, Torben Hansen, Jan Lebl

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 545 KB

english, 2011

9

Lack of PAX4 mutations in 53 Czech MODYX families

P. Dusatkova, K. Vesela, S. Pruhova, J. Lebl, O. Cinek

Journal:

Diabetic Medicine

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

10

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genesHNF-4α,GCKandHNF-1α

S. Pruhova,J. Ek,J. Lebl,Z. Sumnik,F. Saudek,M. Andel,O. Pedersen…

Journal:

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

11

Ancestral mutations may cause a significant proportion of GCK-MODY

Petra Dusatkova, Stepanka Pruhova, Maciej Borowiec, Klara Vesela, Karolina Antosik, Jan Lebl, Wojciech Mlynarski, Ondrej Cinek

Journal:

Pediatric Diabetes

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

12

HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)

Borowiec, M., Fendler, W., Dusatkova, P., Antosik, K., Pruhova, S., Cinek, O., Mysliwiec, M., Jarosz-Chobot, P., Malecki, M. T., Mlynarski, W.

Journal:

Diabetic Medicine

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

13

Lessons from whole-exome sequencing in MODYX families

Dusatkova, Petra, Fang, Mingyan, Pruhova, Stepanka, Gjesing, Anette P., Cinek, Ondrej, Hansen, Torben, Pedersen, Oluf B., Xu, Xun, Lebl, Jan

Journal:

Diabetes Research and Clinical Practice

Year:

2014

Language:

english

File:

PDF, 429 KB

english, 2014

14

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes

Dusatkova, Petra, Pruhova, Stepanka, Sumnik, Zdenek, Kolouskova, Stanislava, Obermannova, Barbora, Cinek, Ondrej, Lebl, Jan

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

15

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes

Dušátková, Petra, Průhová, Štěpánka, Šumník, Zdeněěěk, Koloušková, Stanislava, Obermannová, Barbora, Cinek, Ondřej, Lebl, Jan

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2011

Language:

english

File:

PDF, 134 KB

english, 2011

16

IGF-I Resistance and Turner's Syndrome

Lebl, J., Průhová, S., Zapletalová, J., Pechová, M.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2001

Language:

english

File:

PDF, 1.27 MB

english, 2001

17

A Novel -192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4 Gene (HNF4A) Associates With Late-Onset Diabetes

Ek, J., Hansen, S. P., Lajer, M., Nicot, C., Boesgaard, T. W., Pruhova, S., Johansen, A., Albrechtsen, A., Yderstraede, K., Lauenborg, J., Parrizas, M., Boj, S. F., Jorgensen, T., Borch-Johnsen, K., D

Journal:

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

18

Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

Dusatkova, Lenka, Dusatkova, Petra, Vosahlo, Jan, Vesela, Klara, Cinek, Ondrej, Lebl, Jan, Pruhova, Stepanka

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 662 KB

english, 2015

19

Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness

Pruhova, Stepanka, Dusatkova, Petra, Kraml, Pavel J., Kulich, Michal, Prochazkova, Zdena, Broz, Jan, Zikmund, Jaroslav, Cinek, Ondrej, Andel, Michal, Pedersen, Oluf, Hansen, Torben, Lebl, Jan

Journal:

International Journal of Endocrinology

Year:

2013

Language:

english

File:

PDF, 157 KB

english, 2013

20

Muscle function in Turner syndrome: normal force but decreased power

Soucek, Ondrej, Lebl, Jan, Matyskova, Jana, Snajderova, Marta, Kolouskova, Stanislava, Pruhova, Stepanka, Hlavka, Zdenek, Sumnik, Zdenek

Journal:

Clinical Endocrinology

Year:

2015

Language:

english

File:

PDF, 147 KB

english, 2015

21

Severe Hyperinsulinemic Hypoglycemia in a Neonate: Response to Sirolimus Therapy

Meder, U., Bokodi, G., Balogh, L., Korner, A., Szabo, M., Pruhova, S., Szabo, A. J.

Journal:

Year:

2015

Language:

english

File:

PDF, 791 KB

english, 2015

22

Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Petruzelkova, L., Dusatkova, P., Cinek, O., Sumnik, Z., Pruhova, S., Hradsky, O., Vcelakova, J., Lebl, J., Kolouskova, S.

Journal:

Diabetic Medicine

Year:

2015

Language:

english

File:

PDF, 106 KB

english, 2015

23

MATURITY-ONSET DIABETES OF THE YOUNG WITH END-STAGE NEPHROPATHY: A NEW INDICATION FOR SIMULTANEOUS PANCREAS AND KIDNEY TRANSPLANTATION?

Saudek, Frantisek, Průhová, Štěpánka, Bouček, Peter, Lebl, Jan, Adamec, Miloš, Ek, Jakob, Pedersen, Oluf, Hansen, Torben

Journal:

Transplantation Journal

Year:

2004

Language:

english

File:

PDF, 1.41 MB

english, 2004

24

The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes

Laver, Thomas W, Colclough, Kevin, Shepherd, Maggie, Patel, Kashyap, Houghton, Jayne AL, Dusatkova, Petra, Pruhova, Stepanka, Morris, Andrew D, Palmer, Colin N, McCarthy, Mark I, Ellard, Sian, Hatters

Journal:

Year:

2016

Language:

english

File:

PDF, 740 KB

english, 2016

25

Tolerogenic Dendritic Cells from Poorly Compensated Type 1 Diabetes Patients Have Decreased Ability To Induce Stable Antigen-Specific T Cell Hyporesponsiveness and Generation of Suppressive Regulatory T Cells

Dáňová, Klára, Grohová, Anna, Strnadová, Pavla, Funda, David P., Šumník, Zdeněk, Lebl, Jan, Cinek, Ondřej, Průhová, Štěpánka, Koloušková, Stanislava, Obermannová, Barbora, Petruželková, Lenka, Šedivá,

Journal:

The Journal of Immunology

Year:

2017

Language:

english

File:

PDF, 1.74 MB

english, 2017

26

Alteration of B cell subsets and the receptor for B cell activating factor (BAFF) in paediatric patients with type 1 diabetes

Parackova, Zuzana, Klocperk, Adam, Rataj, Michal, Kayserova, Jana, Zentsova, Irena, Sumnik, Zdenek, Kolouskova, Stanislava, Sklenarova, Jana, Pruhova, Stepanka, Obermannova, Barbora, Petruzelkova, Len

Journal:

Immunology Letters

Year:

2017

Language:

english

File:

PDF, 679 KB

english, 2017

27

Novel glucokinase gene mutation in the first Macedonian family tested for MODY

Kocova, M., Elblova, L., Pruhova, S., Lebl, J., Dusatkova, P.

Journal:

Diabetes Research and Clinical Practice

Year:

2017

Language:

english

File:

PDF, 655 KB

english, 2017

28

MP855GENETIC TESTING OF WT1, NPHS2 AND NPHS1 GENES IN CZECH PEDIATRIC PATIENTS WITH STEROID-RESISTANT NEPHROTIC SYNDROME IDENTIFIED THE GENETIC BACKGROUND IN 25 % CASES

Stolbova, Sarka, Zieg, Jakub, Simankova, Nadezda, Lachova, Jitka, Rosik, Tomas, Dusek, Jiri, Vondrak, Karel, Bezdicka, Martin, Cinek, Ondrej, Pruhova, Stepanka, Seeman, Tomas

Journal:

Nephrology Dialysis Transplantation

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

29

MODY in Ukraine: genes, clinical phenotypes and treatment

Globa, Evgenia, Zelinska, Nataliya, Elblova, Lenka, Dusatkova, Petra, Cinek, Ondrej, Lebl, Jan, Colclough, Kevin, Ellard, Sian, Pruhova, Stepanka

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2017

Language:

english

File:

PDF, 137 KB

english, 2017

30

Choledochal Cyst with 17q12 Chromosomal Duplication

Kotalova, Radana, Dusatkova, Petra, Drabova, Jana, Elblova, Lenka, Dedic, Tomas, Cinek, Ondrej, Lebl, Jan, Pruhova, Stepanka

Journal:

Annals of Human Genetics

Year:

2017

Language:

english

File:

PDF, 357 KB

english, 2017

31

Muscle functions and bone strength are impaired in adolescents with type 1 diabetes

Maratova, Klara, Soucek, Ondrej, Matyskova, Jana, Hlavka, Zdenek, Petruzelkova, Lenka, Obermannova, Barbora, Pruhova, Stepanka, Kolouskova, Stanislava, Sumnik, Zdenek

Journal:

Year:

2017

Language:

english

File:

PDF, 636 KB

english, 2017

32

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

Rozenkova, Klara, Nessa, Azizun, Obermannova, Barbora, Elblova, Lenka, Dusatkova, Petra, Sumnik, Zdenek, Lebl, Jan, Hussain, Khalid, Pruhova, Stepanka

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

33

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93

Bezdíčka, Martin, Štolbová, Šárka, Seeman, Tomáš, Cinek, Ondřej, Malina, Michal, Šimánková, Naděžda, Průhová, Štěpánka, Zieg, Jakub

Journal:

Pediatric Nephrology

Year:

2018

Language:

english

File:

PDF, 624 KB

english, 2018

34

Excellent Glycemic Control Maintained by Open-Source Hybrid Closed-Loop AndroidAPS During and After Sustained Physical Activity

Petruzelkova, Lenka, Soupal, Jan, Plasova, Veronika, Jiranova, Pavlina, Neuman, Vit, Plachy, Lukas, Pruhova, Stepanka, Sumnik, Zdenek, Obermannova, Barbora

Journal:

Diabetes Technology & Therapeutics

Year:

2018

Language:

english

File:

PDF, 325 KB

english, 2018

35

Human gut microbiota transferred to germ-free NOD mice modulate the progression towards type 1 diabetes regardless of the pace of beta cell function loss in the donor

Neuman, Vit, Cinek, Ondrej, Funda, David P., Hudcovic, Tomas, Golias, Jaroslav, Kramna, Lenka, Petruzelkova, Lenka, Pruhova, Stepanka, Sumnik, Zdenek

Journal:

Year:

2019

Language:

english

File:

PDF, 539 KB

english, 2019

36

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

Hansen, Sara K., Párrizas, Marcelina, Jensen, Maria L., Pruhova, Stepanka, Ek, Jakob, Boj, Sylvia F., Johansen, Anders, Maestro, Miguel A., Rivera, Francisca, Eiberg, Hans, Andel, Michal, Lebl, Jan, P

Journal:

Journal of Clinical Investigation

Year:

2002

Language:

english

File:

PDF, 958 KB

english, 2002

37

Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy

Toni, Ledjona, Dušátková, Petra, Novotná, Dana, Zemková, Daniela, Průhová, Štěpánka, Lebl, Jan

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

38

Monocytes contribute to DNA sensing through the TBK1 signaling pathway in type 1 diabetes patients

Zentsova, Irena, Parackova, Zuzana, Kayserova, Jana, Palova-Jelinkova, Lenka, Vrabcova, Petra, Volfova, Nikol, Sumnik, Zdenek, Pruhova, Stepanka, Petruzelkova, Lenka, Sediva, Anna

Journal:

Journal of Autoimmunity

Year:

2019

Language:

english

File:

PDF, 2.05 MB

english, 2019

39

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH

Plachy, Lukas, Strakova, Veronika, Elblova, Lenka, Obermannova, Barbora, Kolouskova, Stanislava, Snajderova, Marta, Zemkova, Dana, Dusatkova, Petra, Sumnik, Zdenek, Lebl, Jan, Pruhova, Stepanka

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 788 KB

english, 2019

40

Data on microbial DNA-induced IL-1β production in monocytes of type 1 diabetes patients

Zentsova, Irena, Parackova, Zuzana, Kayserova, Jana, Palova-Jelinkova, Lenka, Vrabcova, Petra, Volfova, Nikol, Sumnik, Zdenek, Pruhova, Stepanka, Petruzelkova, Lenka, Sediva, Anna

Journal:

Year:

2019

Language:

english

File:

PDF, 391 KB

english, 2019

41

Changes in innate and adaptive immunity over the first year after the onset of type 1 diabetes

Klocperk, Adam, Petruzelkova, Lenka, Pavlikova, Marketa, Rataj, Michal, Kayserova, Jana, Pruhova, Stepanka, Kolouskova, Stanislava, Sklenarova, Jana, Parackova, Zuzana, Sediva, Anna, Sumnik, Zdenek

Journal:

Acta Diabetologica

Year:

2019

Language:

english

File:

PDF, 1.33 MB

english, 2019

42

Glutenâfree diet in children with recentâonset type 1 diabetes: a 12âmonth intervention trial

Neuman, V., Pruhova, S., Kulich, M., Kolouskova, S., Vosahlo, J., Romanova, M., Petruzelkova, L., Obermannova, B., Funda, D.P., Cinek, O., Sumnik, Z.

Journal:

Diabetes, Obesity and Metabolism

Year:

2020

Language:

english

File:

PDF, 1.54 MB

english, 2020

43

Functional analyses of HNF1A-MODY variants refine the interpretation of identified sequence variants

Malikova, Jana, Kaci, Alba, Dusatkova, Petra, Aukrust, Ingvild, Torsvik, Janniche, Vesela, Klara, Kankova, Pavla Dvorakova, NjÃ¸lstad, PÃ¥l R, Pruhova, Stepanka, BjÃ¸rkhaug, Lise

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2020

Language:

english

File:

PDF, 436 KB

english, 2020

44

Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families

Amaratunga, ShenaliÂ Anne, HusseinÂ Tayeb, Tara, Rozenkova, Klara, Kucerova, Petra, Pruhova, Stepanka, Lebl, Jan

Journal:

Hormone Research in Paediatrics

Year:

2020

Language:

english

File:

PDF, 337 KB

english, 2020

45

Neutrophil Extracellular Trap Induced Dendritic Cell Activation Leads to Th1 Polarization in Type 1 Diabetes

Parackova, Zuzana, Zentsova, Irena, Vrabcova, Petra, Klocperk, Adam, Sumnik, Zdenek, Pruhova, Stepanka, Petruzelkova, Lenka, Hasler, Robert, Sediva, Anna

Journal:

Frontiers in Immunology

Year:

2020

File:

PDF, 2.97 MB

2020

46

Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes

Dusatkova, Petra, Pavlikova, Marketa, Spirkova, Alena, Elblova, Lenka, Zdarska, Denisa Janickova, Rozenkova, Klara, Hron, Jakub, Sumnik, Zdenek, Cinek, Ondrej, Lebl, Jan, Pruhova, Stepanka

Journal:

Experimental and Clinical Endocrinology & Diabetes

Year:

2020

File:

PDF, 501 KB

2020