rare mutations
A web oriented software for the optimization of pooled experiments in NGS for detection of rare mutations
... Background: The cost per patient of next generation sequencing for detection of rare mutations may be signifi- cantly reduced using pooled experiments. Recently, some techniques have been proposed for the ...
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3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets
... cancer mutations. While some mutations in the 3D clusters were in single-residue hot- spots, which by definition are frequently mutated in can- cer, the majority were rare ...such mutations is ...
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Dating Rare Mutations from Small Samples with Dense Marker Data
... dating mutations on recombining parts of the genome ...chromosome mutations), where the term “mutation” refers to any kind of variation of DNA se- quence, ...
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Transient antiretroviral therapy selecting for common HIV 1 mutations substantially accelerates the appearance of rare mutations
... In figure 2, we show the surface plots of the waiting times to the occurrence of rare events as a function of drug effi- cacy on viral strains. A key result is that waiting times are significantly smaller when the ...
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Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease
... missense mutations in the Snf2-related CREBBP, activator protein (SRCAP), were found in 12 unrelated ...SRCAP mutations among Caribbean Hispanic patients with LOAD was significantly enriched (p 5 ...
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Rare mutations in Pfmdr1 gene of Plasmodium falciparum detected in clinical isolates from patients treated with anti malarial drug in Nigeria
... of mutations associated with resistance to anti-malarial drugs as a proactive exercise to detect emerging resistance and prevent potential future treat- ment failure ...tified. Mutations in the kelch ...
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Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm
... and rare mutations the better equipped we will be to implement appropriate disease management strategies to defeat disease progression in this debilitating ...
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
... of rare, neutral germline variants makes the identification of rare CRC predisposition alleles ...high-penetrant rare mutations in 16% of familial ...
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Maternal-effect lethal mutations on linkage group II of Caenorhabditis elegans.
... Rare mutations that affect embryonic- specific protein domains or that specifically affect regulation of maternal expression of constitutive genes could also lead t[r] ...
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The genetics of neurodevelopmental disease
... defining rare genetic syndromes, research into psychiatric disorders largely took a different ...very rare mutations predisposing individually to SZ ...
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EuropePMC-PMC4982509.pdf
... As genetic studies have become well powered, loci from these studies are being used to develop therapeutic targets (eg, imatinib for cancer). However, the advent of currently available antipsychotics long preceded ...
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The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients
... After PKU disease is confirmed in a newborn, identify- ing the 2 causing mutations is clinically useful to manage the disease. Mini-haplotypes are easier to obtain and are more informative for mutation analysis, ...
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Rare thyroid non-neoplastic diseases
... different rare entities are distinguished and, among them, rare diseases of the thyroid ...diagnosis. Rare non-neoplastic thyroid diseases will be ...gene mutations and more rarely in THRA ...
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The genetic relationship between epilepsy and hemiplegic migraine
... Different types of SCN1A mutations result in different effects on channel function. The Q1489K and L1649Q mutations cause FHM3, but are not associated with seizures. Con- versely, a gene analysis of a ...
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Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients
... gene mutations lead to variable degrees of ...Heterozygous mutations usually result in mild hypercalcemia seen in familial hypocalciuric hypercalcemia ...CASR mutations result in neonatal severe ...
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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH
... The diagnosis of HHRH can be challenging owing to lack of recognition and a variety of clinical and biochemical presentations (1). Additionally, individuals within the same family and with the same mutations may ...
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Germline PTEN mutations are rare and highly penetrant
... 8. Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Moller P, King MC. Inherited mutations in PTEN that are associated with ...
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Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation
... Germline mutations in the RUNX1 transcription factor have a distinct causal implication in a rare entity of mye- loid neoplasms known as Familial Platelet Disorder with predisposition to Acute Myeloid ...
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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV
... a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tissue-specific enhancer region mapping 270 kb upstream of FOXF1 and ...
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A man with a worrying potassium deficiency
... This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted ...
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