Research Article

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Bladder carcinoma; DNA sequencing; Fibroblast growth factor receptor 3; Mutation; PCR; Transitional cell carcinoma

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and ... more

Y. Dodurga; N.L. Satiroglu-Tufan; C. Tataroglu; Z. Kesen
01/25/2011
Gene; Mutation; TSC1; Tuberous sclerosis complex

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the ... more

G.X. Wang; D.W. Wang; J.S. Zhao; S.F. Wang; R.P. Sun
05/18/2010
Ectodermal dysplasia; EDA; Jordanian; Mutation

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to ... more

O.F. Khabour; F.S. Mesmar; F. Al-Tamimi; O.B. Al-Batayneh; A.I. Owais
01/12/2010
Cleidocranial dysplasia; Gene; Mutation; RUNX2

Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other ... more

G.X. Wang; R.P. Sun; F.L. Song
11/22/2013
Biomarker; Mutation; Myelodysplastic syndromes; Refractory cytopenias with multilineage dysplasia; TET2

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic ... more

D.F. Coutinho; C. Diniz; R.L.D. Filgueiras; R.L.R. Baptista; J.P. Ayres-Silva; B.C.R. Monte-Mór; M.H. Bonamino; I.R. Zalcberg
11/11/2013
Acute myeloid leukemia; Cytogenetic; Hematopoietic stem cell transplantation; Molecular aberrations; Mutation

Different molecular aberrations can be discriminated into certain prognostic subgroups in cytogenetically normal acute myeloid leukemia (CN-AML) patients but their impact on allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains controversial and studies from Asian populations are lacking. Forty-two adult non-M3 AML patients receiving allo-HSCT from 2002 to 2009 in ... more

Y.C. Liu; H.H. Hsiao; P.M. Lin; W.C. Yang; C.S. Chang; T.C. Liu; J.F. Hsu; M.Y. Yang; S.F. Lin
10/29/2013
FMF; MEFV gene; Molecular diagnosis; Mutation

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 ... more

A.G. Zamani; A. Acar; M.S. Yildirim
10/15/2013
Cleidocranial dysplasia; Mutation; RUNX2; Supernumerary teeth

The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle ... more

K.E. Lee; F. Seymen; J. Ko; M. Yildirim; E.B. Tuna; K. Gencay; J.W. Kim
08/12/2013
ADAR1; Dyschromatosis symmetrica hereditaria; Mutation

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions of the extremities. The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (ADAR1 ... more

C.Y. Zhu; K.J. Zhu; Y. Zhou; Y.M. Fan
08/20/2013
Calcium; Chicken; meat quality; Mutation; Porcine stress syndrome; Ryanodine receptor

The development of pale, soft, and exudative (PSE) breast fillet meat has become an economic burden for the poultry industry worldwide. PSE meat results in 1.0-1.5% loss in moisture and carcass weight, and a 2010 estimate of the Brazilian annual production put the economic loss due to PSE at over US$30 million. In the USA, PSE has caused an annual loss of up to US$200 million to the ... more

F.G. Paião; L.M. Ferracin; M. Pedrão; T. Kato; M. Shimokomaki

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