نتایج جستجو برای: heterozygote translocation

تعداد نتایج: 69203  

Abasalt Hosseinzaeh Colagar, Saeedeh Ghazaey Zidanloo,

Background: The human AML1 gene, located on chromosome 21, can be fused to the AML1- eight-twenty-one (ETO) oncoprotein on chromosome eight, resulting in a t(8;21)(q22;q22) translocation. Acute myeloid leukemia (AML) associated with this translocation is considered a distinct AML with a favorable prognosis. Due to the various incidences of the translocation, which is associated with geographic ...

John.C. Bell, Taravat Bamdad,

The herpes simplex virus type 1 (HSV-1) tegument protein, VP22 has been reported to have the property of intercellular transport. The previous studies have shown that following expression of a fusion protein containing VP22 it spreads to every cell in a monolayer and concentrates in the nucleus. In spite of these reports, some studies have shown that VP22 trafficking and its nucleus accumulatio...

ژورنال: طب جنوب 2019
Farzaneh , Mohammad Reza, Hasanpour , Mojtaba, Khavari , Maryam, Mohammadi Baghmollaei , Esmat,

Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...

Alghasi A, Aminasnafi A, Jaseb K, Moeinzadeh L, Noroozi F, Pedram M, Saki Malehi A, Saki N, Salari F, Yousefi H,

Background: Acute lymphoblastic leukemia (ALL) is the most common form of childhood cancer leading to cancer-related death in children. Most infants with ALL harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of the disease. Mixed-lineage leukemia-rearrangement (MLL-rearrange...

Journal: :Human mutation 2014
Zachary L Dwight Robert Palais Jana Kent Carl T Wittwer

Melting curve prediction of PCR products is limited to perfectly complementary strands. Multiple domains are calculated by recursive nearest neighbor thermodynamics. However, the melting curve of an amplicon containing a heterozygous single-nucleotide variant (SNV) after PCR is the composite of four duplexes: two matched homoduplexes and two mismatched heteroduplexes. To better predict the shap...

Journal: :The Journal of Experimental Medicine 1996
J H Leusen A de Klein P M Hilarius A Ahlin J Palmblad C I Smith D Diekmann A Hall A J Verhoeven D Roos

Chronic granulomatous disease (CGD) is characterized by the failure of phagocytic leukocytes to generate superoxide, needed for the intracellular killing of microorganisms. This is caused by mutations in any one of the four subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase. In a rare, autosomal recessive form of CGD, a 67-kD cytosolic component of this enzyme (p67-phox...

Journal: :iranian journal of blood and cancer 0
alghasi a pedram m saki n salari f jaseb k aminasnafi a

background: acute lymphoblastic leukemia (all) is the most common form of childhood cancer leading to cancer-related death in children. most infants with all harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of the disease. mixed-lineage leukemia-rearrangement (mll-rearrange...

Journal: :Infection and immunity 2003
Erin E McClelland Dustin J Penn Wayne K Potts

Genes of the major histocompatibility complex (MHC) play a critical role in immune recognition, and many alleles confer susceptibility to infectious and autoimmune diseases. How these deleterious alleles persist in populations is controversial. One hypothesis postulates that MHC heterozygote superiority emerges over multiple infections because MHC-mediated resistance is generally dominant and m...

2004
Liang Lijun Akira Matsunaga Kazuki Kijima Emi Shirahata Hiroko Izumino Kiyoshi Hayasaka

Address for Correspondence:Kiyoshi Hayasaka, Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan We present two patients with idiopathic nephrotic syndrome who showed temporary indirect hyperbilirubinemia during the course of treatment with immunosuppressant drugs and/or steroids. We analyzed the gene of the bilirubin uridine-diphosphate ...

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