نتایج جستجو برای: exon 10

تعداد نتایج: 1036812  

Journal: :Nucleic Acids Research 2015

J. Habibizad M. Muhaghegh Dolatabady,

Growth differentiation factor 9 (GDF9) belong to the superfamily of transforming growth factor β that is highly expressed in growing ovarian follicles of oocyte, and it has been strongly related to fecundity traits in sheep. Therefore, the GDF9 gene could serve as a genetic marker for improvement of reproductive performance in sheep. Therefore, the aim of this study was to invest...

2007
David M. He

A single rat gene encodes both fibroblast TM-1 and skeletal muscle ~3-tropomyosin by an alternative RNAprocessing mechanism. The gene contains 11 exons: Exons 1-5 and exons 8 and 9 are constitutive exons common to all mRNAs expressed from this gene; exons 6 and 11 are used in fibroblasts as well as smooth muscle; exons 7 and 10 are used exclusively in skeletal muscle. We have studied the intern...

Journal: :Fetal diagnosis and therapy 2005
Ilona Hromadnikova Lenka Vechetova Klara Vesela Blanka Benesova Jindrich Doucha Eduard Kulovany Radovan Vlk

OBJECTIVE In this prospective study, we assessed the feasibility of foetal RHD genotyping by analysis of DNA extracted from plasma samples of Rhesus (Rh) D-negative pregnant women using real-time PCR and primers and probes targeted toward exon 7 and 10 of RHD gene. METHODS We analysed 24 RhD-negative pregnant woman and 4 patients with weak D phenotypes at a gestational age ranging from 11th t...

2017
Katerina Saltiki Elli Anagnostou George Simeakis Sofia Kouki Anastasia Angelopoulou Leda Sarika Alexandra Papathoma Maria Alevizaki

INTRODUCTION High prevalence of RET p.Gly533Cys (c.1597G > T) has been found in familial MTC in Greece (exon 8 fMTC). We studied their origin and compared clinical characteristics with non-exon 8 fMTC. METHODS 102 fMTC (FMTC and MEN2A) patients (31.4% males) were followed for 2.9-37 years (median 6 years). Fifty-one carried the RET exon 8 mutation; the remaining were non-exon 8 fMTC (exons 10...

Journal: :Journal of experimental and integrative medicine 2012
Bulent Kurt Ali B Naini William C Copeland Jiesheng Lu Salvatore Dimauro Michio Hirano

The human mitochondrial genome is replicated by DNA polymerase γ, which is encoded by polymerase γ gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as Alpers' syndrome or progressive external ophthalmoplegia. Our patient was a 48-year old woman with sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. Sequence analysis revealed that she has two h...

2006
NORIYUKI KATSUMATA JUNICHI KOGA TOSHIAKI TANAKA

The gene for human growth hormone receptor (hGHR) consists of at least 10 exons, and the corresponding protein is encoded in exons 2-10 which span at least 87 kbp of chromosome 5. Failure to amplify exons 3 and 8 of the hGHR gene from Japanese subjects with the previously reported primers prompted us to determine intron sequences flanking exon 3 and those flanking exon 8 of the hGHR gene, and n...

Journal: :Human molecular genetics 1998
A Bernot C da Silva J L Petit C Cruaud C Caloustian V Castet M Ahmed-Arab C Dross M Dupont D Cattan N Smaoui C Dodé C Pêcheux B Nédelec J Medaxian M Rozenbaum I Rosner M Delpech G Grateau J Demaille J Weissenbach I Touitou

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mut...

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