Increased copy number of Gibberellin 2‐oxidase 8 genes reduced trailing growth and shoot length during soybean domestication

2021 ◽  
Author(s):  
Xin Wang ◽  
Man‐Wah Li ◽  
Fuk‐Ling Wong ◽  
Ching‐Yee Luk ◽  
Claire Yik‐Lok Chung ◽  
...  
Keyword(s):  
Copy Number ◽  
Shoot Length ◽  
Soybean Domestication

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact

Understanding Schizophrenia: Genetic Causes and Treatment

2019 ◽  
Vol 1 (1) ◽  
pp. 6-12
Author(s):  
Fatima Javeria ◽  
Shazma Altaf ◽  
Alishah Zair ◽  
Rana Khalid Iqbal
Keyword(s):  
Copy Number ◽  
Drug Targets ◽  
Disease Risk ◽  
Mental Disease ◽  
Copy Number Variants ◽  
Aminobutyric Acid ◽  
Epigenetic Mechanisms ◽  
Gamma Aminobutyric Acid ◽  
Wide Range ◽  
Severe Mental Disease

Schizophrenia is a severe mental disease. The word schizophrenia literally means split mind. There are three major categories of symptoms which include positive, negative and cognitive symptoms. The disease is characterized by symptoms of hallucination, delusions, disorganized thinking and speech. Schizophrenia is related to many other mental and psychological problems like suicide, depression, hallucinations. Including these, it is also a problem for the patient’s family and the caregiver. There is no clear reason for the disease, but with the advances in molecular genetics; certain epigenetic mechanisms are involved in the pathophysiology of the disease. Epigenetic mechanisms that are mainly involved are the DNA methylation, copy number variants. With the advent of GWAS, a wide range of SNPs is found linked with the etiology of schizophrenia. These SNPs serve as ‘hubs’; because these all are integrating with each other in causing of schizophrenia risk. Until recently, there is no treatment available to cure the disease; but anti-psychotics can reduce the disease risk by minimizing its symptoms. Dopamine, serotonin, gamma-aminobutyric acid, are the neurotransmitters which serve as drug targets in the treatment of schizophrenia. Due to the involvement of genetic and epigenetic mechanisms, drugs available are already targeting certain genes involved in the etiology of the disease.

Koduojančios ir nekoduojančios genomo sekos variantų bei kopijų skaičiaus pokyčių molekulinis ir funkcinis vertinimas

2020 ◽  
Author(s):  
◽  
Evelina Siavrienė
Keyword(s):  
Genome Sequence ◽  
Copy Number ◽  
Copy Number Variants ◽  
Sequence Variants ◽  
Functional Evaluation

A Molecular and Functional Evaluation of Coding and Non-Coding Genome Sequence Variants and Copy Number Variants

Salinity Tolerance of Black Gram Cultivars During Germination and Early Seedling Growth

2018 ◽  
Vol 51 (3) ◽  
pp. 51-68 ◽  
Author(s):  
M.K. Hasan ◽  
M.S. Islam ◽  
M.R. Islam ◽  
H.N. Ismaan ◽  
A. El Sabagh
Keyword(s):  
Salt Stress ◽  
Salinity Tolerance ◽  
Seedling Growth ◽  
Negative Impact ◽  
Germination Rate ◽  
Dry Weight ◽  
Germination Percentage ◽  
Shoot Length ◽  
Sand Culture ◽  
Black Gram

Abstract A laboratory experiment regarding germination and seedling growth test was conducted with three black gram genotypes tested under three salinity levels (0, 75 and 150 mM), for 10 days, in sand culture within small plastic pot, to investigate the germination and seedling growth characteristics. Different germination traits of all black gram genotypes, like germination percentage (GP), germination rate (GR), coefficient of velocity of germination (CVG) greatly reduced, as well as mean germination time (MGT) increased with increasing salt stress. At high salt stress, BARI Mash-3 provided the highest GP reduction (28.58%), while the lowest was recorded (15.79% to control) in BARI Mash-1. Salinity have the negative impact on shoot and root lengths, fresh and dry weights. The highest (50.32% to control) and lowest reduction (36.39%) of shoot length were recorded in BARI Mash-2 and BARI Mash-1, respectively, under 150 mM NaCl saline conditions. There were significant reduction of root lengths, root fresh and dry weight, shoot length, shoot fresh and dry weight in all genotypes under saline condition. The genotypes were arranged as BARI Mash-1 > BARI Mash-3 > BARI Mash-2, with respect to salinity tolerance.

0306 Exploring the feasibility of using copy number variants as genetic markers through large-scale whole genome sequencing experiments

2016 ◽  
Vol 94 (suppl_5) ◽  
pp. 146-146
Author(s):  
D. M. Bickhart ◽  
L. Xu ◽  
J. L. Hutchison ◽  
J. B. Cole ◽  
D. J. Null ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genetic Markers ◽  
Genome Sequencing ◽  
Copy Number ◽  
Large Scale ◽  
Copy Number Variants ◽  
Whole Genome

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

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