Research Article

Related GMR Articles

02/08/2011
COL1A1; COL1A2; Heredity; Mutation; Osteogenesis imperfecta

Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and ... more

Z. Yang; Z.F. Ke; C. Zeng; Z. Wang; H.J. Shi; L.T. Wang
12/07/2010
Gamma radiation; Mutation; SSCP; Vitis vinifera L.

The effects of induced mutation produced by five different doses of gamma irradiation (20, 25, 30, 40, and 45 Gy) were determined using molecular approaches in Vitis vinifera cultivars, namely Thompson Seedless (Sultani Çekirdeksiz) (progenitor of seedless vinifera variety) and Kalecik Karası (one of the best quality wine grape variety of Turkey). Mutant candidates were ... more

D. Karataş; B. Kunter; G. Coppola; R. Velasco
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
12/04/2013
Genetics; Mutation; Steroid-resistant nephrotic syndrome; Wilms’ tumor suppressor gene

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated ... more

Y.H. Yang; F. Zhao; D.N. Feng; J.J. Wang; C.F. Wang; J. Huang; X.J. Nie; G.Z. Xia; G.M. Chen; Z.H. Yu
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
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
05/21/2013
Ancient DNA; Mutation; Pan troglodytes; Pongo pygmaeus; β-globin gene; β-thalassemia

DNA was recovered from teeth of 2 great ape skeletons, Pan troglodytes (Ptr) and Pongo pygmaeus (Ppy), belonging to a 19th-century zoological collection. The skeletons presented morphological alterations possibly associated with β-thalassemia: Ptr had deformation of the calvaria and oro-maxillo-facial bones with porotic hyperostosis and extended osteoporotic lesions of ... more

J. Vuch; M.S. Siori; M.P. Bigatti; L. Segat; G. De Fabrizio; S. Crovella

Pages