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   Articles with "mutation" as a keyword



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Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3

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recommendations! Published in 2017 at "JAMA Dermatology"

DOI: 10.1001/jamadermatol.2017.2926

Abstract: Importance Genetic testing for melanoma-prone mutation in France, a country with low to moderate incidence of melanoma, is proposed in cases with 2 invasive cutaneous melanomas and/or related cancers in the same patient, or in… read more here.

Keywords: melanoma; genetic testing; low moderate; moderate incidence ... See more keywords
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Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome

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recommendations! Published in 2017 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2016.6389

Abstract: Importance Li Fraumeni syndrome (LFS) is associated with a wide variety of tumors; nevertheless, thyroid carcinoma has not been evaluated in this syndrome. Due to the Brazilian founder mutation p.R337H, some tumors that have not… read more here.

Keywords: thyroid carcinoma; tp53 r337h; mutation;
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Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies

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recommendations! Published in 2017 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2017.0619

Abstract: Importance Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome–associated cancers are amenable to surveillance… read more here.

Keywords: surveillance; age; endometrial cancer; cancer ... See more keywords
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Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers

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recommendations! Published in 2018 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2018.0211

Abstract: Importance Prophylactic bilateral salpingo-oophorectomy is recommended for BRCA1 mutation carriers to prevent ovarian cancer. Whether or not hormone replacement therapy (HRT) initiated after oophorectomy is associated with an increased risk of breast cancer has not… read more here.

Keywords: brca1 mutation; breast cancer; hrt; cancer ... See more keywords
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The clinically relevant triple mutation in the mtND1 gene inactivates Escherichia coli complex I.

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recommendations! Published in 2022 at "FEBS letters"

DOI: 10.1002/1873-3468.14325

Abstract: NADH:ubiquinone oxidoreductase (respiratory complex I) plays a major role in cellular energy metabolism. Complex I deficiencies are the most common cause of mitochondrial dysfunction. Patients suffering from a variety of neurodegenerative diseases carry numerous mutations… read more here.

Keywords: relevant triple; escherichia coli; triple mutation; mtnd1 ... See more keywords
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TERT C228T mutation in non‐malignant bladder urothelium is associated with intravesical recurrence for patients with non‐muscle invasive bladder cancer

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recommendations! Published in 2020 at "Molecular Oncology"

DOI: 10.1002/1878-0261.12746

Abstract: Telomerase reverse transcriptase (TERT) promoter mutations are frequently found in tumors or urine from patients with urothelial carcinoma (UC). TERT promoter mutations are also detected in urine from patients with no evidence of cancer but… read more here.

Keywords: recurrence; bladder; c228t mutation; tert c228t ... See more keywords

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

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recommendations! Published in 2018 at "FEBS Open Bio"

DOI: 10.1002/2211-5463.12389

Abstract: Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1, WNK4, CUL3, and KLHL3) have been identified to be responsible for this… read more here.

Keywords: cul3; exon; pseudohypoaldosteronism type; mutation ... See more keywords
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Investigation of the combination of intratumoral and peritumoral radiomic signatures for predicting epidermal growth factor receptor mutation in lung adenocarcinoma.

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recommendations! Published in 2023 at "Journal of applied clinical medical physics"

DOI: 10.1002/acm2.13980

Abstract: Abstract Purpose We investigated optimal peritumoral size and constructed predictive models for epidermal growth factor receptor (EGFR) mutation. Methods A total of 164 patients with lung adenocarcinoma were retrospectively analyzed. Radiomic signatures for the intratumoral… read more here.

Keywords: predictive models; epidermal growth; intratumoral peritumoral; radiomic signatures ... See more keywords
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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50910

Abstract: CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of… read more here.

Keywords: capn3 roma; novel intronic; capn3; intronic capn3 ... See more keywords
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A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.701

Abstract: Vaccinia‐related kinase 1 (VRK1) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous VRK1 p.W375X mutation causing… read more here.

Keywords: distal hereditary; hereditary motor; motor; vrk1 ... See more keywords
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Identification of a novel missense mutation in Friedreich's ataxia –FXNW 168R

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.728

Abstract: Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation.… read more here.

Keywords: novel missense; friedreich ataxia; missense mutation; identification novel ... See more keywords