نتایج جستجو برای: homozygote

تعداد نتایج: 22474  

Journal: :Pesticide Biochemistry and Physiology 2021

Metabolic resistance driven by multiple P450 genes is worsening insecticide in malaria vectors. However, it remains unclear whether such over-expression imposes an additive fitness cost the Here, we showed that two highly over-expressed (CYP6P9a and CYP6P9b) combine to impose costs pyrethroid-resistant Anopheles funestus. Genotyping of CYP6P9b allele hybrid mosquitoes from a FUMOZ-R susceptible...

Journal: :The Kurume medical journal 1994
A Nishiyori K Fukuda K Itoh H Kato

An individual genotype of aldehyde dehydrogenase 2 was observed using nail clippings by an improved method consisting of DNA extraction with guanidium thiocyanate, genomic DNA amplification by non-isotopic polymerase chain reaction, and gel electrophoresis of the DNA fragment. The results were consistent with those obtained using the corresponding peripheral blood samples. The individual phenot...

Journal: :Middle East journal of anaesthesiology 2015
Anis Baraka

Because the parturient should be always considered as a patient with a full stomach and a possible difficult airway, succinylcholine is considered the muscle relaxant of choice for rapid sequence induction of general anesthesia. During pregnancy, the level of plasma cholinesterase which hydrolyses succinylcholine is moderately decreased, and hence hydrolysis of succinylcholine remains within th...

Journal: :Bioscience reports 1992
J Chauvet Y Rouille A Spang A M Cardine R Acher

The homozygote Brattleboro rat exhibits a hereditary diabetes insipidus due to a deficiency of vasopressin, the antidiuretic hormone. It has previously been shown that in this animal a single nucleotide deletion in the provasopressin gene leads to a mutant precursor with a C-terminal amino acid sequence different from that of the wild-type. However the N-terminal region including the hormone mo...

2011
Onur Akin Erkan Demirkaya Adem Polat Ezgi Deniz Batu Yusuf Tunca Cengizhan Acikel Harun Peru Betul Sozeri Ismail Dursun Hakan Poyrazoglu Faysal Gok Seza Ozen

Results The mean age of disease onset was 5.1 ± 3.6 years and the mean age at diagnosis was 7.3 ±3.1 years. The mean number of attacks per year was 7.7 ± 7.8, the mean duration of attacks 1.7 ± 1.6 days. The most common clinical manifestations were fever (91.6%) and abdominal pain (90.3%). The other manifestations were arthralgia (44.1%), arthritis (18.6%), headache (17.3%), myalgia (15.6%), vo...

Journal: :The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2011
Mahmoud Aarabi Toktam Memariani Soheila Arefi Mohsen Aarabi Sedigheh Hantoosh Zadeh Mehdi A Akhondi Mohammad H Modarressi

We investigated polymorphisms of plasminogen activator inhibitor-1 (PAI-1), angiotensin converting enzyme (ACE ) and coagulation factor XIII (FXIII) genes and their association with recurrent spontaneous abortion (RSA) in Iranian patients and normal healthy controls. Ten (18.5%) patients were homozygote (4G/4G) for PAI-1 polymorphism, in contrast with two (2%) controls (p = 0.001). Patients wit...

2017
Noel Edwards Eric Olinger Jennifer Adam Michael Kelly Guglielmo Schiano Simon A Ramsbottom Richard Sandford Olivier Devuyst John A Sayer

Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) affecting a conserved cysteine residue within the EGF-like domain III of uromodulin. Comparison of h...

Journal: :Journal of gastrointestinal and liver diseases : JGLD 2012
Hideto Yamada Tomomitsu Tahara Hisakazu Shiroeda Ranji Hayashi Takashi Saito Masakatsu Nakamura Mutsumi Tsuchishima Mikihiro Tsutsumi Tomoyuki Shibata Tomiyasu Arisawa

BACKGROUND AND AIM Histamine plays important physiological roles in upper gastrointestinal tract and acts via the H2 receptor. A polymorphism -1018 G>A (rs2067474) was identified in an enhancer element of the HRH2 promoter. We attempted to clarify the associations of this polymorphism with the progression of gastric mucosal atrophy. METHODS Gastric mucosa samples were obtained from 398 subjec...

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