نتایج جستجو برای: 19 new variant

تعداد نتایج: 2323532  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
G Ratnaswamy M E Huff A I Su S Rion J W Kelly

Mutations at position 187 in secreted gelsolin enable aberrant proteolysis at the 172-173 and 243-244 amide bonds, affording the 71-residue amyloidogenic peptide deposited in Familial Amyloidosis of Finnish Type (FAF). Thermodynamic comparisons of two different domain 2 constructs were carried out to study possible effects of the mutations on proteolytic susceptibility. In the construct we cons...

2017
Bhuvan Molparia Eshaan Nichani Ali Torkamani

Current high-sensitivity cancer screening methods, largely utilizing correlative biomarkers, suffer from false positive rates that lead to unnecessary medical procedures and debatable public health benefit overall. Detection of circulating tumor DNA (ctDNA), a causal biomarker, has the potential to revolutionize cancer screening. Thus far, the majority of ctDNA studies have focused on detection...

Journal: :Gene 2010
Irina K Gogolevskaya Natalia A Veniaminova Dmitri A Kramerov

Until recently, zokors (Myospalacinae) were assigned to the Cricetidae family. However, analysis of mitochondrial and nuclear genes suggests a sister relationship between zokors and subterranean rodents of the Spalacidae family, namely blind mole rats (Spalacinae) and bamboo rats (Rhizomyinae). Here, we cloned and sequenced copies of the B1 short interspersed element (SINE) from the genome of z...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003
Michele Zappella Ilaria Meloni Ilaria Longo Roberto Canitano Giuseppe Hayek Lucia Rosaia Francesca Mari Alessandra Renieri

Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. The aim of this study is to determine whether MECP2 mutations are responsible for PSV only or may cause other forms of autistic...

Journal: :Contact dermatitis 2014
Ulrik Fischer Friis Jakob Dahlin Magnus Bruze Torkil Menné Jeanne Duus Johansen

Ulrik Fischer Friis1, Jakob Dahlin2, Magnus Bruze2, Torkil Menné3 and Jeanne Duus Johansen1 1National Allergy Research Centre, Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, 2900, Hellerup, Denmark, 2Department of Occupational and Environmental Dermatology, University Hospital Malmö, 20502, Malmö, Sweden, and 3Department of Dermato-Allergology, Copenhagen University...

2007
Richard A Armstrong

Pathological changes in striate (B17, V1) and extrastriate (B18, V2) visual cortex were studied in variant Creutzfeldt-Jakob disease (vCJD). No differences in densities of vacuoles or surviving neurons were observed in B17 and B18 but densities of glial cell nuclei and deposits of prion protein (PrP) were greater in B18. PrP deposit densities in B17 and B18 were positively correlated. Diffuse d...

Amir Farhang Zand Parsa, Kamran Alimoghaddam Mandana Mohyeddin Bonab

Experimental and clinical studies have shown that intracoronary transplantation of autologous bone marrow mesenchymal stem cells (BMSCs) has resulted in regenerated infarcted myocardium and improved left ventricular (LV) function. <span style="font-variant: normal; font-style: normal; f...

Journal: :Jurnal Biomedika dan Kesehatan 2021

Virus penyebab COVID-19, SARS-CoV-2 terus mengalami mutasi membentuk varian baru. Varian terbaru yang telah terdeteksi, yaitu Omicron dikenal sebagai B.1.1.529.(1) ini pertama kali dilaporkan di Afrika Selatan pada tanggal 24 November 2021 dan saat menyebar ke seluruh dunia.(1,2)

Journal: :ScienceRise 2022

The object of research: study, investigated the clinical presentations patients who tested Positive for Covid-19 (Omicron Variant), their response to treatment, and levels transmissibility infection.&#x0D; Investigated problem: As globe, continent, nation are struggling with emergency new COVID-19 omicron Virant outbreak there’s not much information known about behavior this threat enable clini...

This paper reports a study on the effect of the heat flux, cooling water flow rate, fill ratio and extra volume on the overall performance of a partially vacuumed <span style="font-size: 10pt; color: #...

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