Mutations

Old Tissues Have Many Mutations, Even Absent Cancer

[ad_1] Cancer is the result of random mutational damage to nuclear DNA, but most such damage has no real effect, not even to the behavior of the affected cell. Cells...

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Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling.

[ad_1] Related Articles Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling. Clin Sci (Lond). 2019 Jan 04;: Authors: Xie Y, Ma...

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

[ad_1] Related Articles Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. Am J Hum Genet. 2019 Jan 03;104(1):94-111 Authors: Khan TN, Khan K,...

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Correction: GNE myopathy in Chinese population: hotspot and novel mutations

[ad_1] Correction: GNE myopathy in Chinese population: hotspot and novel mutations Source link [ad_2]

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MAPINS, a Highly Efficient Detection Method That Identifies Insertional Mutations and Complex DNA Rearrangements

[ad_1] Insertional mutagenesis, in which a piece of exogenous DNA is integrated randomly into the genomic DNA of the recipient cell, is a useful method to generate new mutants with...

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(Pro)renin receptor promotes colorectal cancer through the Wnt/beta-catenin signalling pathway despite constitutive pathway component mutations

[ad_1] (Pro)renin receptor promotes colorectal cancer through the Wnt/beta-catenin signalling pathway despite constitutive pathway component mutations Source link [ad_1]

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Noncoding mutations contribute to autism risk

[ad_1] A whole-genome sequencing study of nearly 2,000 families has implicated mutations in 'promoter regions' of the genome -- regions that precede the start of a gene -- in autism....

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PCNT point mutations and familial intracranial aneurysms

[ad_1] Objective To identify novel genes involved in the etiology of intracranial aneurysms (IAs) or subarachnoid hemorrhages (SAHs) using whole-exome sequencing. Methods We performed whole-exome sequencing in 13 individuals from...

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis

[ad_1] Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis Source link [ad_1]

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Vertex Announces European Commission Approval for KALYDECO® (ivacaftor) to Treat Patients with Cystic Fibrosis Aged 12 to <24 months with Certain Mutations in the CFTR Gene

[ad_1] LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals (Europe) Limited today announced that the European Commission has granted approval of the label extension for KALYDECO® (ivacaftor) to include the treatment of people with cystic...

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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

[ad_1] de Majo, M; Topp, SD; Smith, BN; Nishimura, AL; Chen, H-J; Gkazi, AS; Miller, J; ... Shaw, CE; + view all de Majo, M; Topp, SD; Smith, BN; Nishimura,...

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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

[ad_1] Objective To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. Methods We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously...

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Gut protein mutations shield against spikes in glucose

[ad_1] Why is it that, despite consuming the same number of calories, sodium and sugar, some people face little risk of diabetes or obesity while others are at higher risk?...

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Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

[ad_1] AbstractBackground The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a...

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Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations

[ad_1] Steele-Stallard, HB; Pinton, L; Sarcar, S; Ozdemir, T; Maffioletti, SM; Zammit, PS; Tedesco, FS; (2018) Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations....

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The Bigger the Brain, the Bigger the Tumor Risk?

[ad_1] It's a matter of math: A large brain means more brain cells, and more cells means more cell divisions that can go wrong and cause mutations that trigger cancer,...

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Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA

[ad_1] Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim of this study was to identify the genetic causes underlying the disease, attempt possible phenotype/genotype...

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

[ad_1] CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Source link [ad_2]

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GNE myopathy in Chinese population: hotspot and novel mutations

[ad_1] GNE myopathy in Chinese population: hotspot and novel mutations Source link [ad_2]

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Vertex Announces European Authorization for Third Cystic Fibrosis Medicine SYMKEVI® (tezacaftor/ivacaftor), to be used in combination with ivacaftor (KALYDECO®), for People with CF Aged 12 and Older with Certain Mutations in the CFTR gene

[ad_1] LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals (Europe) Limited, today announced that the European Commission has granted Marketing Authorization for SYMKEVI® (tezacaftor/ivacaftor) in a combination regimen with ivacaftor (KALYDECO®) for the treatment of...

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