Works matching DE "WOLFRAM syndrome"

Results: 106

Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

Published in:

Acta Diabetologica, 2017, v. 54, n. 11, p. 1019, doi. 10.1007/s00592-017-1042-6

By:

Zmyslowska, Agnieszka;
Fendler, Wojciech;
Waszczykowska, Arleta;
Niwald, Anna;
Borowiec, Maciej;
Jurowski, Piotr;
Mlynarski, Wojciech

Publication type:

Article

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Published in:

Acta Diabetologica, 2016, v. 53, n. 6, p. 899, doi. 10.1007/s00592-016-0884-7

By:

Ghahraman, Martha;
Abbaszadegan, Mohammad;
Vakili, Rahim;
Hosseini, Sousan;
Fardi Golyan, Fatemeh;
Ghaemi, Nosrat;
Forghanifard, Mohammad

Publication type:

Article

Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes.

Published in:

Acta Diabetologica, 2015, v. 52, n. 6, p. 1057, doi. 10.1007/s00592-015-0757-5

By:

Zmyslowska, A.;
Fendler, W.;
Szadkowska, A.;
Borowiec, M.;
Mysliwiec, M.;
Baranowska-Jazwiecka, A.;
Buraczewska, M.;
Fulmanska-Anders, M.;
Mianowska, B.;
Pietrzak, I.;
Rzeznik, D.;
Mlynarski, W.

Publication type:

Article

Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.

Published in:

2015

By:

Rondinelli, Maurizio;
Novara, Francesca;
Calcaterra, Valeria;
Zuffardi, Orsetta;
Genovese, Stefano

Publication type:

Report

A Rare Case of Wolfram Syndrome.

Published in:

Journal of Pediatric Nephrology, 2015, v. 3, n. 1, p. 35

By:

Moghtaderi, Mastaneh;
Asadi, Farahnak;
Gorji, Mojtaba;
Allahverdi, Bahar;
Sayarifard, Fetemeh;
Rostami, Parasto

Publication type:

Article

Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 2, p. 212, doi. 10.1111/pedi.13291

By:

Ray, Mary Katherine;
Ling Chen;
White, Neil H.;
Ni, Richard;
Hershey, Tamara;
Marshall, Bess A.

Publication type:

Article

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772

By:

Hattersley, Andrew T.;
Greeley, Siri A. W.;
Polak, Michel;
Rubio‐Cabezas, Oscar;
Njølstad, Pål R.;
Mlynarski, Wojciech;
Castano, Luis;
Carlsson, Annelie;
Raile, Klemens;
Chi, Dung V.;
Ellard, Sian;
Craig, Maria E.

Publication type:

Article

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

Published in:

Pediatric Diabetes, 2017, v. 18, n. 8, p. 934, doi. 10.1111/pedi.12513

By:

Morikawa, Shuntaro;
Tajima, Toshihiro;
Nakamura, Akie;
Ishizu, Katsura;
Ariga, Tadashi

Publication type:

Article

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 389, doi. 10.1515/jpem.2011.215

By:

Pitt, Katherine;
James, Chela;
Kochar, Inderpal S.;
Kapoor, Akshay;
Jain, Shilpi;
Hussain, Khalid;
Bennett, Kate

Publication type:

Article

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 389, doi. 10.1515/JPEM.2011.215

By:

Pitt, Katherine;
James, Chela;
Kochar, Inderpal S.;
Kapoor, Akshay;
Jain, Shilpi;
Hussain, Khalid;
Bennett, Kate

Publication type:

Article

Selective cognitive and psychiatric manifestations in Wolfram Syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0282-1

By:

Bischoff, Allison N.;
Reiersen, Angela M.;
Buttlaire, Anna;
Al-lozi, Amal;
Doty, Tasha;
Marshall, Bess A.;
Hershey, Tamara

Publication type:

Article

Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome.

Published in:

Diabetes Care, 2015, v. 38, n. 3, p. e36, doi. 10.2337/dc14-1898

By:

Zmyslowska, Agnieszka;
Fendler, Wojciech;
Niwald, Anna;
Ludwikowska-Pawlowska, Malgorzata;
Borowiec, Maciej;
Antosik, Karolina;
Szadkowska, Agnieszka;
Mlynarski, Wojciech

Publication type:

Article

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Published in:

BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130

By:

Farmer, Amy;
Aymé, Ségolène;
de Heredia, Miguel Lopez;
Maffei, Pietro;
McCafferty, Susan;
Młynarski, Wojciech;
Nunes, Virginia;
Parkinson, Kay;
Paquis-Flucklinger, Véronique;
Rohayem, Julia;
Sinnott, Richard;
Tillmann, Vallo;
Tranebjærg, Lisbeth;
Barrett, Timothy G.

Publication type:

Article

Síndrome de Wolfram y trastornos psiquiátricos: A propósito de un caso.

Published in:

2014

By:

Ferreira Frías, M. P.;
Geijo Uribe, M. S.;
Ímaz Roncero, C.;
Sotelo Martín, E.;
Vásquez Cornieles, E.

Publication type:

Case Study

Liraglutide, 7,8-DHF and their co-treatment prevents loss of vision and cognitive decline in a Wolfram syndrome rat model.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81768-6

By:

Seppa, Kadri;
Jagomäe, Toomas;
Kukker, Kaia Grete;
Reimets, Riin;
Pastak, Marko;
Vasar, Eero;
Terasmaa, Anton;
Plaas, Mario

Publication type:

Article

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Published in:

2020

By:

La Morgia, Chiara;
Maresca, Alessandra;
Amore, Giulia;
Gramegna, Laura Ludovica;
Carbonelli, Michele;
Scimonelli, Emanuela;
Danese, Alberto;
Patergnani, Simone;
Caporali, Leonardo;
Tagliavini, Francesca;
Del Dotto, Valentina;
Capristo, Mariantonietta;
Sadun, Federico;
Barboni, Piero;
Savini, Giacomo;
Evangelisti, Stefania;
Bianchini, Claudio;
Valentino, Maria Lucia;
Liguori, Rocco;
Tonon, Caterina

Publication type:

Correction Notice

Retraction: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.

Published in:

Nature Cell Biology, 2015, v. 17, n. 1, p. 105, doi. 10.1038/ncb3088

By:

Fonseca, Sonya G.;
Urano, Fumihiko;
Weir, Gordon C.;
Gromada, Jesper;
Burcin, Mark

Publication type:

Article

Integrating insulin secretion and ER stress in pancreatic ?-cells.

Published in:

Nature Cell Biology, 2012, v. 14, n. 10, p. 979, doi. 10.1038/ncb2594

By:

Lemaire, Katleen;
Schuit, Frans

Publication type:

Article

Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.

Published in:

Nature Cell Biology, 2012, v. 14, n. 10, p. 1105, doi. 10.1038/ncb2578

By:

Fonseca, Sonya G.;
Urano, Fumihiko;
Weir, Gordon C.;
Gromada, Jesper;
Burcin, Mark

Publication type:

Article

A Case of Wolfram Syndrome Presenting with Restlessness.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2016, v. 34, n. 1, p. 42, doi. 10.3329/jbcps.v34i1.29166

By:

Mowla, S. G. M.;
Miah, M. T.;
Rahman, A.;
Shonchoi, S. S.;
Alam, M. N.;
Salim, M.

Publication type:

Article

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice.

Published in:

Frontiers in Molecular Neuroscience, 2015, v. 8, p. 1, doi. 10.3389/fnmol.2015.00045

By:

Tein, Karin;
Kasvandik, Sergo;
Kõks, Sulev;
Vasar, Eero;
Terasmaa, Anton

Publication type:

Article

Low dose targeted alpha blockers for refractory bladder symptoms in children: a single centre experience.

Published in:

Australian & New Zealand Continence Journal, 2021, v. 27, n. 1, p. 7, doi. 10.33235/anzcj.27.1.7-12

By:

Chopra, Prakshi;
Eliezer, Dilharan D.;
Jenkins, Michelle;
Deshpande, Aniruddh V.

Publication type:

Article

Commentary: Wolfram (DIDMOAD) syndrome: A progressive disorder with nonsynchronized clinical and imaging features.

Published in:

2016

By:

Dutta Satyarthee, Guru;
Satyarthee, Guru Dutta

Publication type:

Letter

Wolfram (DIDMOAD) syndrome with ventral central pontine hyperintensity without brainstem atrophy.

Published in:

2016

By:

Harsha, Kamble J.;
Parameswaran, K.

Publication type:

Letter

An adolescent male with persistent urinary symptoms.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 11, p. 3209, doi. 10.1007/s00467-024-06424-3

By:

Saha, Suchismita;
Sinha, Rajiv

Publication type:

Article

A Case of Persistent Polyuria in an Insulin-Dependent Child With Diabetes.

Published in:

2016

By:

Mangaraj, Swayamsidha;
Choudhury, Arun Kumar;
Mohanty, Binoy Kumar;
Baliarsinha, Anoj Kumar

Publication type:

Case Study

Mania in Wolfram's Disease: From Bedside to Bench.

Published in:

2017

By:

Chatterjee, Seshadri Sekhar;
Mitra, Sayantanava;
Pal, Salil Kumar

Publication type:

Case Study

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

Published in:

Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00018

By:

Duan, Lian;
Li, Qian;
Tong, An-Li;
Mao, Jiang-Feng;
Yu, Miao;
Yuan, Tao;
Chai, Xiao-Feng;
Gu, Feng

Publication type:

Article

Evaluation of hearing screening in newborns in Poland.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 3, p. 249, doi. 10.5114/polp.2022.119899

By:

Bubula, Lidia;
Dardzińska, Nicol;
Dorobisz, Karolina

Publication type:

Article

Lack of functional wolframin causes drop in plasmalemmal sodium-calcium exchanger type 1 expression at early stage in rat model of Wolfram syndrome.

Published in:

General Physiology & Biophysics, 2020, v. 39, n. 5, p. 499, doi. 10.4149/gpb_2020017

By:

Kurekova, Simona;
Plaas, Mario;
Cagalinec, Michal

Publication type:

Article

WFS1 Gene–associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. 1328, doi. 10.1210/clinem/dgac002

By:

Chapla, Aaron;
Johnson, Jabasteen;
Korula, Sophy;
Mohan, Nisha;
Ahmed, Anish;
Varghese, Deny;
Rangasamy, Parthiban;
Ravichandran, Lavanya;
Jebasingh, Felix;
Agrawal, Krishna Kumar;
Somasundaram, Noel;
Shyamasunder, Asha Hesarghatta;
Mathai, Sarah;
Simon, Anna;
Jha, Sujeet;
Chowdry, Subhankar;
Venkatesan, Radha;
Raghupathy, Palany;
Thomas, Nihal

Publication type:

Article

Phenotype-genotype correlations in a series of wolfram syndrome families.

Published in:

2004

By:

Smith, Casey J. A.;
Crock, Patricia A.;
King, Bruce R.;
Meldrum, Cliff J.;
Scott, Rodney J.

Publication type:

journal article

Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.

Published in:

Molecular Biology Reports, 2014, v. 41, n. 11, p. 7499, doi. 10.1007/s11033-014-3642-3

By:

Sobhani, Maryam;
Tabatabaiefar, Mohammad;
Rajab, Asadollah;
Kajbafzadeh, Abdol-Mohammad;
Noori-Daloii, Mohammad

Publication type:

Article

Analysis of metabolic effects of menthol on WFS1-deficient mice.

Published in:

Physiological Reports, 2016, v. 4, n. 1, p. 1, doi. 10.14814/phy2.12660

By:

Ehrlich, Marite;
Ivask, Marilin;
Raasmaja, Atso;
Kõks, Sulev

Publication type:

Article

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 34, doi. 10.4274/jcrpe.galenos.2020.2020.0152

By:

Sherif, Maha;
Demirbilek, Hüseyin;
Çayır, Atilla;
Tahir, Sophia;
Çavdarlı, Büşra;
Demiral, Meliha;
Cebeci, Ayşe Nurcan;
Vurallı, Doğuş;
Rahman, Sofia Asim;
Unal, Edip;
Büyükyılmaz, Gönül;
Baran, Rıza Taner;
Özbek, Mehmet Nuri;
Hussain, Khalid

Publication type:

Article

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 1, p. 80, doi. 10.4274/jcrpe.2894

By:

Çelmeli, Gamze;
Türkkahraman, Doğa;
Çürek, Yusuf;
Houghton, Jayne;
Akçurin, Sema;
Bircan, İffet

Publication type:

Article

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 482, doi. 10.4274/jcrpe.3021

By:

Prochazkova, Dagmar;
Hruba, Zuzana;
Konecna, Petra;
Skotakova, Jarmila;
Fajkusova, Lenka

Publication type:

Article

Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus.

Published in:

2015

By:

Yalın, Gülşah Y.;
Emiksiyev, Sirhan;
Tanrıkulu, Seher;
Üzüm, Ayşe Kubat;
Aral, Ferihan;
Tanakol, Refik;
Satman, İlhan

Publication type:

Abstract

Wolfram (DIDMOAD) Syndrome - Report of Two Siblings.

Published in:

2015

By:

Özmen, Esra;
Kınık, Sibel Tulgar

Publication type:

Abstract

Wolfram (DIDMOAD) Syndrome - Report of Two Siblings.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 66

By:

Özmen, Esra;
Kınık, Sibel Tulgar

Publication type:

Article

Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 69

By:

Yalın, Gülşah Y.;
Emiksiyev, Sirhan;
Tanrıkulu, Seher;
Üzüm, Ayşe Kubat;
Aral, Ferihan;
Tanakol, Refik;
Satman, İlhan

Publication type:

Article

Molecular investigation of WFS1 gene exon 8 in Iranian patients with Wolfram syndrome.

Published in:

International Journal of Diabetes in Developing Countries, 2016, v. 36, n. 1, p. 75, doi. 10.1007/s13410-015-0425-x

By:

Abbasi, Roshanak;
Bitarafan, Fatemeh;
Khodaeian, Mehrnoosh;
Ebrahim-Habibi, Azadeh;
Abbasi, Farzaneh;
Amoli, Mahsa

Publication type:

Article

Cardiac abnormalities and Wolfram (DIDMOAD) syndrome: a case report.

Published in:

International Journal of Diabetes in Developing Countries, 2016, v. 36, n. 1, p. 136, doi. 10.1007/s13410-015-0445-6

By:

Mir, Shahnaz;
S, Bashir;
Shah, Parvaiz;
Hameed, Iqra;
Ali, Irfan

Publication type:

Article

Monogenic diabetes-diagnostic conundrums.

Published in:

International Journal of Diabetes in Developing Countries, 2016, v. 36, n. 1, p. 1, doi. 10.1007/s13410-016-0476-7

By:

Chapla, Aaron;
Jebasingh, Felix;
Thomas, Nihal

Publication type:

Article

Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.

Published in:

1986

By:

BLASI, C.;
PIERELLI, F.;
RISPOLI, E.;
SAPONARA, M.;
VINGOLO, E.;
ANDREANI, P.;
Andreani, D

Publication type:

journal article

Dominant ER Stress-Inducing Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

Published in:

2017

By:

De Franco, Elisa;
Flanagan, Sarah E.;
Takuya Yagi;
Abreu, Damien;
Mahadevan, Jana;
Johnson, Matthew B.;
Jones, Garan;
Acosta, Fernanda;
Mulaudzi, Mphele;
Ngee Lek;
Oh, Vera;
Petz, Oliver;
Caswell, Richard;
Ellard, Sian;
Fumihiko Urano;
Hattersley, Andrew T.;
Yagi, Takuya;
Lek, Ngee;
Urano, Fumihiko

Publication type:

journal article

Wolfram to Alstrom: Analysis of a Diagnostic Error.

Published in:

Online Journal of Health & Allied Sciences, 2021, v. 20, n. 2, p. 1

By:

Chakrabarty, Annapoorna;
Rai, Shipra;
Saravu, Kavitha

Publication type:

Article

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

Published in:: 2012
Publication type:: Case Study

Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

Published in:

PLoS Genetics, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.pgen.1007196

By:

Sakakibara, Yasufumi;
Sekiya, Michiko;
Fujisaki, Naoki;
Quan, Xiuming;
Iijima, Koichi M.

Publication type:

Article

Be aware of Wolfram syndrome when examining ataxic patients.

Published in:

2016

By:

Antenora, Antonella;
Lieto, Maria;
Santorelli, Filippo;
Peluso, Silvio;
Saccà, Francesco;
Michele, Giuseppe;
Filla, Alessandro

Publication type:

Letter