Works matching Connective tissue disease genetics

Results: 69

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

Published in:

Nature Reviews Genetics, 2009, v. 10, n. 3, p. 173, doi. 10.1038/nrg2520

By:

Bateman, John F.;
Boot-Handford, Raymond P.;
Lamandé, Shireen R.

Publication type:

Article

Genetics of Connective Tissue Diseases: State of the Art and Perspectives.

Published in:

Russian Journal of Genetics, 2018, v. 54, n. 7, p. 788, doi. 10.1134/S1022795418070025

By:

Baranov, V. S.;
Arsentyev, V. G.;
Serebryakova, E. A.;
Shabalov, N. P.

Publication type:

Article

Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.

Published in:

Antioxidants, 2020, v. 9, n. 10, p. 1013, doi. 10.3390/antiox9101013

By:

Egea, Gustavo;
Jiménez-Altayó, Francesc;
Campuzano, Victoria

Publication type:

Article

Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.

Published in:

Antioxidants, 2020, v. 9, n. 10, p. 1013, doi. 10.3390/antiox9101013

By:

Egea, Gustavo;
Jiménez-Altayó, Francesc;
Campuzano, Victoria

Publication type:

Article

Medical genetics: Collagen and inherited connective tissue diseases.

Published in:

Nature, 1983, v. 305, n. 5937, p. 764, doi. 10.1038/305764a0

By:

Sykes, Bryan

Publication type:

Article

Interferons (IFN-A/-B/-G) Genetic Variants in Patients with Mixed Connective Tissue Disease (MCTD).

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2046, doi. 10.3390/jcm8122046

By:

Paradowska-Gorycka, Agnieszka;
Wajda, Anna;
Stypinska, Barbara;
Walczuk, Ewa;
Walczyk, Marcela;
Felis-Giemza, Anna;
Poluch-Lewandowska, Aleksandra;
Olesińska, Marzena

Publication type:

Article

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 223, doi. 10.1038/76102

By:

Le Saux, Olivier;
Urban, Zsolt;
Tschuch, Cordula;
Csiszar, Katalin;
Bacchelli, Barbara;
Quaglino, Daniela;
Pasquali-Ronchetti, Ivonne;
Pope, F. Michael;
Richards, Allan;
Terry, Sharon;
Bercovitch, Lionel;
de Paepe, Anne;
Boyd, Charles D.

Publication type:

Article

Mutations in ABCC6 cause pseudoxanthoma elasticum.

Published in:

Nature Genetics, 2000, v. 25, n. 2, p. 228, doi. 10.1038/76109

By:

Bergen, Arthur A.B.;
Plomp, Astrid S.;
Schuurman, Ellen J.;
Terry, Sharon;
Breuning, Martijn;
Dauwerse, Hans;
Swart, Jaap;
Kool, Marcel;
van Soest, Simone;
Baas, Frank;
ten Brink, Jacoline B.;
de Jong, Paulus T.V.M.

Publication type:

Article

Shaping Skeletal Growth by Modular Regulatory Elements in the Bmp5 Gene.

Published in:

PLoS Genetics, 2008, v. 4, n. 12, p. 1, doi. 10.1371/journal.pgen.1000308

By:

Guenther, Catherine;
Pantalena-Filho, Luiz;
Kingsley, David M.

Publication type:

Article

Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Published in:

Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 532, doi. 10.1111/jvim.14654

By:

Packer, R.A.;
Logan, M.A.;
Guo, L.T.;
Apte, S.S.;
Bader, H.;
O'Brien, D.P.;
Johnson, G.;
Shelton, G.D.

Publication type:

Article

Understanding Interstitial Lung Diseases Associated with Connective Tissue Disease (CTD-ILD): Genetics, Cellular Pathophysiology, and Biologic Drivers.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2405, doi. 10.3390/ijms24032405

By:

Cerro Chiang, Giuliana;
Parimon, Tanyalak

Publication type:

Article

Genetic Background of Hypertension in Connective Tissue Diseases.

Published in:

2020

By:

Grygiel-Górniak, Bogna;
Ziółkowska-Suchanek, Iwona;
Kaczmarek, Elżbieta;
Puszczewicz, Mariusz;
Rozwadowska, Natalia

Publication type:

journal article

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 3, p. 387, doi. 10.1007/s00431-013-2187-0

By:

Ting, Teck;
Lai, Angeline;
Choo, Jonathan;
Tan, Teng

Publication type:

Article

Identification of a New Splice Variant of the Human ABCC6 Transporter.

Published in:

Research Letters in Biochemistry, 2008, p. 1, doi. 10.1155/2008/912478

By:

Armentano, Maria Francesca;
Ostuni, Angela;
Infantino, Vittoria;
Iacobazzi, Vito;
Morelli, Maria Antonietta Castiglione;
Bisaccia, Faustino

Publication type:

Article

Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers–Danlos syndrome (EDS)

Published in:

FEBS Letters, 2010, v. 584, n. 18, p. 3962, doi. 10.1016/j.febslet.2010.08.001

By:

Bui, Catherine;
Talhaoui, Ibtissam;
Chabel, Matthieu;
Mulliert, Guillermo;
Coughtrie, Michael W.H.;
Ouzzine, Mohamed;
Fournel-Gigleux, Sylvie

Publication type:

Article

NewABCC6gene mutations in German pseudoxanthoma elasticum patients.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 2, p. 140, doi. 10.1007/s00109-004-0588-2

By:

Hendig, Doris;
Schulz, Veronika;
Eichgrün, Jutta;
Szliska, Christiane;
Götting, Christian;
Kleesiek, Knut

Publication type:

Article

Exploring the Genetic Association Between Connective Tissue Diseases and the Risk of Pulmonary Arterial Hypertension: A Mendelian Randomization Analysis.

Published in:

Pulmonary Circulation, 2024, v. 14, n. 4, p. 1, doi. 10.1002/pul2.70033

By:

Wang, Xiaoqin;
Yang, Leilei;
Gu, Bingjie;
Su, Dinglei

Publication type:

Article

Novel classification for global gene signature model for predicting severity of systemic sclerosis.

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199314

By:

Johnson, Zariel I.;
Conley, Yvette P.;
Yates, Cecelia C.;
Jones, Jacqueline D.;
Mukherjee, Angana;
Ren, Dianxu;
Feghali-Bostwick, Carol

Publication type:

Article

Sarcoidosis in patients with mixed connective tissue disease: clinical, genetic, serological and histological observations.

Published in:

Rheumatology International, 2008, v. 28, n. 8, p. 743, doi. 10.1007/s00296-008-0519-6

By:

Szodoray, Peter;
Szollosi, Zoltan;
Gyimesi, Edit;
Takacs, Istvan;
Mekkel, Gabriella;
Vegh, Judit;
Szilagyi, Anna;
Zeher, Margit;
Szegedi, Gyula;
Bodolay, Edit

Publication type:

Article

Intermittent hypoxia activates temporally coordinated transcriptional programs in visceral adipose tissue.

Published in:

Journal of Molecular Medicine, 2012, v. 90, n. 4, p. 435, doi. 10.1007/s00109-011-0830-7

By:

Gharib, Sina;
Khalyfa, Abdelnaby;
Abdelkarim, Amal;
Ramesh, Vijay;
Buazza, Mohamed;
Kaushal, Navita;
Bhushan, Bharat;
Gozal, David

Publication type:

Article

Multi-exon deletions of the FBN1 gene in Marfan syndrome.

Published in:

BMC Medical Genetics, 2001, v. 2, p. 1

By:

Wanguo Liu;
Schrijver, Iris;
Brenn, Thomas;
Furthmayr, Heinz;
Francke, Uta

Publication type:

Article

Polymorphisms in STAT4 and IRF5 increase the risk of systemic sclerosis: a meta-analysis.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 4, p. 408, doi. 10.1111/ijd.12839

By:

Xu, Yang;
Wang, Wenling;
Tian, Yanli;
Liu, Jingyang;
Yang, Rongya

Publication type:

Article

Emergent airway management in a case of fibrodysplasia ossificans progressiva.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 4, p. 565, doi. 10.4103/0970-9185.142865

By:

Parekh, Uma R.;
Read, Selina;
Desai, Vimal;
Budde, Arne O.

Publication type:

Article

Genetics of Connective Tissue Disease.

Published in:

Medical Journal of Australia, 1993, v. 158, n. 10, p. 678, doi. 10.5694/j.1326-5377.1993.tb121915.x

By:

Cole, William G

Publication type:

Article

Genetics and pathogenesis of connective tissue disease-associated interstitial lung disease.

Published in:

Indian Journal of Rheumatology, 2021, v. 16, p. 29, doi. 10.4103/0973-3698.332976

By:

Kumar, Sharath

Publication type:

Article

A novel 110-bp insertion in a patient with homocysteinuria.

Published in:

2011

By:

Torun, Didem;
İleri, Talia;
Gündüz, Kaan;
Akar, Nejat

Publication type:

Letter

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0122-5

By:

Ritelli, Marco;
Chiarelli, Nicola;
Dordoni, Chiara;
Reffo, Elena;
Venturini, Marina;
Quinzani, Stefano;
Monica, Matteo Della;
Scarano, Gioacchino;
Santoro, Giuseppe;
Russo, Maria Giovanna;
Calzavara-Pinton, Piergiacomo;
Milanesi, Ornella;
Colombi, Marina

Publication type:

Article

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 20, doi. 10.1111/cge.14026

By:

Scicluna, Kirsty;
Formosa, Melissa M.;
Farrugia, Rosienne;
Borg, Isabella

Publication type:

Article

Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.928803

By:

Takeaki Imamura;
Takaki Omura;
Nobuo Sasaki;
Satoshi Arino;
Haruna Nohara;
Akira Saito;
Maki Ichinose;
Kazumasa Yamaguchi;
Naoki Kojima;
Hiroshi Inagawa;
Katsutoshi Takahashi;
Toshiyuki Unno;
Hiroko Morisaki;
Osamu Ishikawa;
Gakushi Yoshikawa;
Yasusei Okada

Publication type:

Article

Spontaneous Sigmoid Colon Perforation and Ruptured Subserosal ("Zebra" Pattern) Small-Bowel Hematomas in Type IV Ehlers–Danlos Syndrome: A Case Report and a Short Review.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 14, p. 4093, doi. 10.3390/jcm13144093

By:

Augustin, Goran;
Radin, Iva;
Bubalo, Tomislav;
Mavrek, Josip;
Pavlek, Goran

Publication type:

Article

A de novo in‐frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.

Published in:

Animal Genetics, 2019, v. 50, n. 6, p. 786, doi. 10.1111/age.12843

By:

Letko, Anna;
Zdora, Isabel;
Hitzler, Valerie;
Jagannathan, Vidhya;
Beineke, Andreas;
Möhrke, Carola;
Drögemüller, Cord

Publication type:

Article

Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 1, p. 135, doi. 10.1111/ced.14394

By:

Quintana Castanedo, L.;
Rodríguez Bandera, A.I.;
Feito Rodríguez, M.;
González García, M.C.;
Stewart, N.;
Lucas Laguna, R.

Publication type:

Article

Fluoroscopy-guided Sacroiliac Joint Steroid Injection for Low Back Pain in a Patient with Osteogenesis Imperfecta.

Published in:

2015

By:

Dawson1, PUA;
Rose2, REC;
Wade, N.A.

Publication type:

Case Study

Coronary Artery Aneurysm or Ectasia as a Form of Coronary Artery Remodeling: Etiology, Pathogenesis, Diagnostics, Complications, and Treatment.

Published in:

Biomedicines, 2024, v. 12, n. 9, p. 1984, doi. 10.3390/biomedicines12091984

By:

Woźniak, Patrycja;
Iwańczyk, Sylwia;
Błaszyk, Maciej;
Stępień, Konrad;
Lesiak, Maciej;
Mularek-Kubzdela, Tatiana;
Araszkiewicz, Aleksander

Publication type:

Article

Anesthetic Management in Mucopolysaccharidoses.

Published in:

ISRN Anesthesiology, 2013, p. 1, doi. 10.1155/2013/791983

By:

Spinello, Concetta Maria;
Novello, Lorena Maria;
Pitino, Sofia;
Raiti, Claudia;
Murabito, Paolo;
Stimoli, Fortunato;
Astuto, Marinella

Publication type:

Article

Recurrent retinal detachment secondary to hereditary congenital collagen disease.

Published in:

Acta Ophthalmologica (1755375X), 2012, v. 90, p. 0, doi. 10.1111/j.1755-3768.2012.S092.x

By:

BAMBO, M;
ARA, M;
EGEA, MC;
FERNANDEZ‐PEREZ, S;
HERRERO, R;
GARCIA‐MARTIN, E;
DE LA MATA, G;
SATUE, M

Publication type:

Article

Copy Number Variation of HLA-DQA1 and APOBEC3A/3B Contribute to the Susceptibility of Systemic Sclerosis in the Chinese Han Population.

Published in:

2016

By:

Guo, Shicheng;
Li, Yuan;
Wang, Yi;
Chu, Haiyan;
Chen, Yulin;
Liu, Qingmei;
Guo, Gang;
Tu, Wenzhen;
Wu, Wenyu;
Zou, Hejian;
Yang, Li;
Xiao, Rong;
Ma, Yanyun;
Zhang, Feng;
Xiong, Momiao;
Jin, Li;
Zhou, Xiaodong;
Wang, Jiucun

Publication type:

journal article

Cutaneous signs in heritable disorders of the connective tissue.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 4, p. 253

By:

Inamadar, Arun C.;
Palit, Aparna

Publication type:

Article

АРИТМОГЕННА ДЕСНОКАМЕРНА ДИСПЛАЗИЯ – ПРИЧИНА ЗА ВНЕЗАПНА СМЪРТ ПРИ ДЕЦА.

Published in:

Medical Review - Cardiovascular Diseases, 2022, v. 53, n. 1, p. 63

By:

Каишева, Е.;
Господинова, Д.;
Згурова, Н.

Publication type:

Article

Osteogenesis Imperfecta with Celiac Disease and Type II Diabetes Mellitus Associated: Improvement with a Gluten-Free Diet.

Published in:

Case Reports in Medicine, 2012, p. 1, doi. 10.1155/2012/813461

By:

Rodrigo, Luis;
Perez-Martinez, Isabel

Publication type:

Article

Plenary Lectures.

Published in:: 2004
Publication type:: Abstract

Peripartum anesthetic management of a patient with brittle cornea syndrome.

Published in:

Archives of Gynecology & Obstetrics, 2011, v. 283, p. 49, doi. 10.1007/s00404-011-1838-5

By:

Ioscovich, A.;
Grisaru-Granovsky, S.;
Halpern, S.;
Shapiro, Y.

Publication type:

Article

Hypergammaglobulinæmia in Mink initiated by a Cell-free Filtrate.

Published in:

Nature, 1963, v. 197, n. 4863, p. 206, doi. 10.1038/197206a0

By:

HENSON, JAMES B.;
GORHAM, JOHN R.;
LEADER, ROBERT W.

Publication type:

Article

Infectious endocarditis complicated by an ischemic stroke and revealing Marfan syndrome.

Published in:

2011

By:

Souirti, Zouhayr;
Boujraf, Saïd;
Charai, Nadia;
Chtaou, Naïma;
Belahsen, Faouzi;
Messouak, Ouafae;
Messouak, Mohammed

Publication type:

Case Study

Myocardial Infarction in Young Adults: Diagnosis Begins Through Inspection.

Published in:

Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2024, v. 52, n. 4, p. 293, doi. 10.5543/tkda.2023.52578

By:

Kumral, Zeynep;
Çolak, Ayse;
Özpelit, Mehmet Emre;
Özpelit, Ebru

Publication type:

Article

Growing from common ground: nontuberculous mycobacteria and bronchiectasis.

Published in:

European Respiratory Review, 2024, v. 33, n. 173, p. 1, doi. 10.1183/16000617.0058-2024

By:

Van Braeckel, Eva;
Bosteels, Cédric

Publication type:

Article

Non-infectious mixed cryoglobulinemia as a new clinical presentation of mutation in the gene encoding coatomer subunit alpha: a case report of two adult sisters.

Published in:

2024

By:

Leśniak, Ksymena;
Płoski, Rafał;
Rydzanicz, Małgorzata;
Rymarz, Aleksandra;
Lubas, Arkadiusz;
Syryło, Tomasz;
Niemczyk, Stanisław

Publication type:

Case Study

Successful treatment of post-pericardiotomy syndrome via C1 inhibitor replacement therapy in a hereditary angioedema patient with Marfan syndrome.

Published in:

Turkish Journal of Pediatrics, 2023, v. 65, n. 2, p. 338, doi. 10.24953/turkjped.2022.637

By:

Topyıldız, Ezgi;
Şenol, Handan Duman;
Gülen, Figen;
Demir, Esen;
Gökmen, Nihal Mete

Publication type:

Article

Anatomie und Pathogenese der Divertikelkrankheit.

Published in:

Der Chirurg, 2014, v. 85, n. 4, p. 281, doi. 10.1007/s00104-013-2617-6

By:

Wedel, T.;
Böttner, M.

Publication type:

Article

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.

Published in:

2024

By:

Nishijo, Daigo;
Yagi, Hiroki;
Akiyama, Nana;
Takeda, Norifumi;
Ando, Masahiko;
Yamauchi, Haruo;
Takeda, Norihiko;
Komuro, Issei;
Mittal, Balraj

Publication type:

Case Study