Mutations

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Related Articles Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. Hum Mol Genet. 2019 May 21;: Authors: Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German...

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Adaptation and Phenotypic Diversification in Arabidopsis through Loss-of-Function Mutations in Protein-Coding Genes

According to the less-is-more hypothesis, gene loss is an engine for evolutionary change. Loss-of-function (LoF) mutations resulting in the natural knockout of protein-coding genes not only provide information about gene...

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Transcriptional and functional consequences of TP53 splice mutations in colorectal cancer

[ad_1] Transcriptional and functional consequences of TP53 splice mutations in colorectal cancer Source link [ad_1]

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Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations

A 27-month-old girl presented with a short history of jaundice initially attributed to drug-induced liver injury. During the preceding 20 days, she had received a 10-day course of cefprozil and...

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Association between CT imaging features and KIT mutations in small intestinal gastrointestinal stromal tumors

[ad_1] Association between CT imaging features and KIT mutations in small intestinal gastrointestinal stromal tumors Source link [ad_1]

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C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Spinocerebellar ataxias (SCAs) are characterized by progressive cerebellar ataxia with or without non-cerebellar symptoms and classified as autosomal dominant, autosomal recessive, X-linked and mitochondrial. Spinocerebellar ataxia, autosomal recessive 8 (SCAR8)...

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A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations.

[ad_1] A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations. Case Rep Pediatr. 2019;2019:7640140 Authors: Sri A, Daubeney P, Prasad S, Baksi J, Kinali M,...

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A platform for rapidly profiling mutations and gene expression offers valuable insights into cancer biology

[ad_1] A tumor can contain remarkable diversity, where even neighboring cells may differ greatly in terms of the mutations they contain. A device that can overcome this heterogeneity by enabling...

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Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy Source link

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Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ve... Source link

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Ovarian cancer patients undertested for mutations that could guide clinical care

Fewer than a quarter of breast cancer patients and a third of ovarian cancer patients diagnosed between 2013 and 2014 in two states underwent genetic testing for cancer-associated mutations, according...

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Targeting β-catenin overcomes MEK inhibition resistance in colon cancer with KRAS and PIK3CA mutations

[ad_1] Targeting β-catenin overcomes MEK inhibition resistance in colon cancer with KRAS and PIK3CA mutations Source link [ad_1]

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Woman Feels No Pain, Thanks to Gene Mutations

[ad_1] And not only does her DNA allow Jo Cameron, a former school teacher from Scotland, to avoid physical pain, it also keeps her largely anxiety-free, too. Source link [ad_2]

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CRISPR-Chip Can Detect Genetic Mutations Within Minutes

Researchers at the University of California, Berkeley and the Keck Graduate Institute of The Claremont Colleges have developed a hand-held device that can detect genetic mutations, such as those causing...

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CRISPR-Chip Can Detect Genetic Mutations Within Minutes

[ad_1] Researchers at the University of California, Berkeley and the Keck Graduate Institute of The Claremont Colleges have developed a hand-held device that can detect genetic mutations, such as those...

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Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4

Objective To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A. Methods A combination of...

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Targeting EGFR exon 20 insertion mutations in non-small cell lung cancer

The post Targeting EGFR exon 20 insertion mutations in non-small cell lung cancer appeared first on Biochemistry Blog: Biochemistry Help. Source link

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Gene mutations may match patients to pancreatic cancer treatments

[ad_1] Researchers from the University of Pittsburg Medical Center have found specific genetic mutations that revealed which pancreatic cancer tumors could be susceptible to existing chemotherapy drugs, according to an...

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Mutations May Help Target Pancreatic Cancer Tx

[ad_1] (MedPage Today) -- Gene alterations could make tumors vulnerable to agents used for other cancers Source link [ad_1]

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CRISPR base editing, known for precision, hits a snag with off-target mutations

[ad_1] The version of CRISPR whose selling point has been its precision suffers, ironically, from the same shortcoming that has dogged other forms of the genome editor — that it...

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