• Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. (spandidos-publications.com)
  • This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future. (spandidos-publications.com)
  • Most of the mutations causing FAP are nonsense or frameshift mutations, and can result in premature stop codons thus produce truncated APC proteins ( 7 ). (spandidos-publications.com)
  • In nine families, we found BRCA1 and BRCA2 germline mutations that comprised four frameshift mutations and five nonsense mutations. (ewha.ac.kr)
  • In total, 31 different FLCN mutations were identified, fourteen were frameshift type and other types included nonsense, in-frame deletion, missense and splice-site mutations. (scienceblog.com)
  • 7- 9 All reported mutations are single nucleotide alterations leading to splice site, missense, nonsense, or frameshift mutations, or intra-exonic deletions and insertions of up to four nucleotides, which have been detected through exonic PCR amplifications and sequencing. (bmj.com)
  • For germline de novo mutations, we find significant enrichment of loss-of-function mutations in constrained genes (corrected- P = 0.0410) and deleterious mutations in presynaptic active zone genes (FDR = 0.0415). (nature.com)
  • Germline loss-of-function mutations in BRCA1 are associated with a high lifetime risk of breast and ovarian cancer. (biomedcentral.com)
  • Germline loss of function mutations followed by somatic loss of non-mutant alleles in the tumours 2- 4 suggests a tumour suppressor role for mitochondrial complex II in the paraganglia. (bmj.com)
  • Deletions in the spectrin-like region of ANC-1 led to significant defects, but only recapitulated the null phenotype in combination with mutations in the trans-membrane span. (ucdavis.edu)
  • In the present study, we collected detailed clinical data and screened CFTR mutations in 20 additional Chinese patients to describe the phenotype more accurately and expand the mutation spectrum. (biomedcentral.com)
  • The varied genotype-phenotype relationships in RB are due to the wide array of genetic variations linked to RB1, which include chromosomal rearrangements, large exonic deletions, hypermethylation of the gene promoter region, small length mutations, and single nucleotide substitutions. (paojournal.com)
  • An analysis integrating single-cell RNA-sequencing data identifies a subset of excitatory neurons preferentially expressing the genes hit by deleterious mutations, which are also characterized by high expression of developmental disorder genes. (nature.com)
  • In the analysis of postzygotic mutations, we observe significant enrichment of deleterious ones in developmental disorder genes ( P = 0.00135), including the SRCAP gene mutated in two unrelated probands. (nature.com)
  • These data collectively indicate the contributions of both germline and postzygotic mutations to the risk of bipolar disorder, supporting the hypothesis that postzygotic mutations of developmental disorder genes may contribute to bipolar disorder. (nature.com)
  • Given the prevalence of chain-terminating mutations in human disease genes, puromycin treatment of blood samples should improve the signal-to-noise ratio and hence the sensitivity of many RNA-based diagnostic tests. (aacrjournals.org)
  • Another way to control genes is by nonsense-mediated decay, where incorrect or incomplete RNA molecules are destroyed before they can be used to make defective proteins. (elifesciences.org)
  • This tumor also had the highest quantity of sequence mutations inside the WGS series, with six non silent mutations in 5 genes, IDH1,p. (gsk-3inhibitors.com)
  • H3F3A, WHSC1 and three other genes identified to possess mutations in discovery series tumors, ATRX, EP300, and CHD2, have histone connected functions. (gsk-3inhibitors.com)
  • Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. (ewha.ac.kr)
  • Mutations in splicing elements, for example, have been found in genes such as LKB1 , KIT , CDH17 , KLF6 and BRCA1 , and changes in trans-acting regulators can affect the expression of genes such as Ron , RAC1 and CD44 . (biologists.com)
  • Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6. (elsevierpure.com)
  • Therefore we investigated if mutations in other genes are involved in cancer development and whether TNBC is an additional indicator of mutational status besides family history and age of onset. (biomedcentral.com)
  • We performed a germline panel-based screening of 10 high and low-moderate penetrance breast cancer susceptibility genes ( BRCA1 , BRCA2 , ATM , CDH1 , CHEK2 , NBN , PALB2 , RAD51C , RAD51D and TP53) in 229 consecutive individuals affected with TNBC unselected for age, family history or bilateral disease. (biomedcentral.com)
  • While no mutations were found in CDH1 and TP53 , 10 mutations were detected in one of the six other predisposition genes. (biomedcentral.com)
  • In summary, our data confirm and expand previous studies of a high frequency of germline mutations in genes associated with ineffective repair of DNA damage in women with TNBCs. (biomedcentral.com)
  • The most common cause of hereditary breast cancer is because of inherited germline mutations in the high-penetrant cancer predisposition genes BRCA1 and BRCA2 . (eurjbreasthealth.com)
  • Although germline TP53 mutations are rare and seen in approximately 1% of all breast cancers, the lifetime risk of breast cancer in TP53 mutation carriers is nearly 80-90%, considerably greater than for other genes (4). (eurjbreasthealth.com)
  • To evaluate the effect of splice-site mutations in two Lynch syndrome patients, we carried out a functional splicing assay using minigenes. (elsevierpure.com)
  • In contrast to the abundance mutations in SDHB and SDHD , only a single multiply affected family and an isolated case, containing a single nucleotide initiation codon and a splice site mutations in SDHC , respectively, have been described by Niemann et al . (bmj.com)
  • The mutations include missense and nonsense mutations, small insertions and deletions, and gross genetic alterations including large deletions and duplications. (elsevierpure.com)
  • PHOX2B was the 1st gene for which germline mutations - such as heterozygous missense and nonsense mutations - were found in individuals with neuroblastoma [13, 14]. (unambitiousus.com)
  • To better understand its genetic architecture, we analyze ultra-rare de novo mutations in 354 trios with bipolar disorder. (nature.com)
  • The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
  • The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. (medscape.com)
  • If a patient with a suspected polyposis syndrome undergoes genetic testing and does not have an APC gene mutation, MYH gene testing should be performed to assess for MAP, as 10%-20% of patients who do not have an APC gene mutation have biallelic MYH gene mutations. (medscape.com)
  • We extended the genetic analysis to all family members of the patient (mother, sister and brothers) and none of them had any alteration in the GLA gene, suggesting a de novo mutation in the patient. (biomedcentral.com)
  • Correlation between genotype and residual enzyme activity is not strong, depending on the mutation and additional genetic and non-genetic factors. (biomedcentral.com)
  • The 36 siblings that also received genetic testing were confirmed to have the same mutations as their relatives.Among the 156 FLCN mutation carriers (120+36), 142 had chest CTs and all but one family presented with pulmonary cysts. (scienceblog.com)
  • In addition to these genetic changes, mutations in introns are also involved in the pathogenesis. (elsevierpure.com)
  • According to current guidelines, genetic testing in Germany is recommended in BC patients, who have at least a 10% prior probability of carrying a BRCA1/2 mutation based on clinical criteria as age of manifestation, family history and contralateral disease [ 5 ] and, only since end of 2016, considering receptor triple negativity before age 50. (biomedcentral.com)
  • Clinical presentation and family history, combined with molecular genetic testing of tumor and/or peripheral blood, are used to determine if a patient has a heritable or non-heritable mutation. (paojournal.com)
  • This information can then be used to determine the genetic status of the parents of a proband with RB, as well as the risk of inheriting the cancer-predisposing mutation in the proband's siblings and offspring. (paojournal.com)
  • Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)
  • The aim of this study was to determine the frequency of germline variants in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 in patients admitted to a medical genetics clinic with breast cancer and to assess these identified variants according to published genetic, surgical and oncological perspectives. (eurjbreasthealth.com)
  • Molecular characterization and identification of mutations have important implications for predictive, preventive, and personalized medicine, including genetic counseling and development of specific treatment protocols. (eurjbreasthealth.com)
  • Germline TP53 mutations are associated with Li-Fraumeni syndrome, a rare autosomal dominant genetic disorder. (eurjbreasthealth.com)
  • Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. (ewha.ac.kr)
  • Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. (ewha.ac.kr)
  • To investigate the presence of BRCA1 and BRCA2 germline mutations in Korean breast and/or ovarian cancer families, we screened a total of 27 cases from 21 families including two or more affected first- or second-degree relatives with breast and/or ovarian cancer. (ewha.ac.kr)
  • Dive into the research topics of 'Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. (ewha.ac.kr)
  • Two adult siblings, both heterozygous for two particular NBS1 nonsense mutations displayed cellular sensitivity to radiation, chromosome instability and fertility defects, but not the developmental defects that are typically found in other NBS patients. (wikipedia.org)
  • Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X in both individuals. (nih.gov)
  • Heterozygous germline inactivating mutations in SDHD , SDHC , and SDHB , which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase), cause hereditary paraganglioma types 1, 3, and 4 (PGL1, PGL3, and PGL4), respectively. (bmj.com)
  • Gene mutations: missense versus nonsense mutations, insertions, deletions and frameshifts. (manchester.ac.uk)
  • We initiated this study to detect and characterize the RB1 gene mutations in tumor samples collected from Filipino patients with retinoblastoma. (paojournal.com)
  • This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
  • Germline mutations in the menin tumor suppressor gene may represent missense, nonsense, deletion, or RNA splicing defects and are distributed anywhere along the 9 coding exons and the intron-exon junctions of the gene. (capsulehealth.one)
  • Tumorigenesis in retinoblastoma is due to inactivation of both alleles of the RB susceptibility gene RB1.6,7 RB1 is a tumor suppressor gene whose deletion or mutation causes unregulated proliferation of embryonal retinal cells. (paojournal.com)
  • Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
  • Among the nine mutations, three novel BRCA1 mutations (E1114X, Q1299X, 4159delGA) and two novel BRCA2 mutations (K467X, 8945delAA) were identified in this work. (ewha.ac.kr)
  • So far, TNBC has been mainly associated with mutations in BRCA1. (biomedcentral.com)
  • Deleterious BRCA1 mutations occurred in 14.8% of TNBC patients. (biomedcentral.com)
  • Furthermore, patients with non- BRCA1/2 mutations were not significantly younger than mutation negative women ( p = 0.3341). (biomedcentral.com)
  • Most importantly, among the 57 mutation carriers, ten (17.5%) would be missed using current clinical testing criteria including five (8%) with BRCA1/2 mutations. (biomedcentral.com)
  • In the years 2007 and 2008, when gene testing was restricted to BRCA1 and BRCA2 several studies have demonstrated that BRCA1 -mutation carriers are more likely to be diagnosed with TNBC than non-carriers [ 6 ]. (biomedcentral.com)
  • The purpose of this study was to determine the frequency of germline variants in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 in a population of Turkish patients admitted to a medical genetics clinic with breast cancer. (eurjbreasthealth.com)
  • It is estimated that the risk of developing breast cancer by age of 80 is 72% for BRCA1 mutation carriers and 69% for BRCA2 mutation carriers, respectively. (eurjbreasthealth.com)
  • Important abnormalities within the other three tumors from the WGS series have been an ETV6 NTRK3 fusion linked with CDKN2A deletion, an H3F3A mutation, in addition to a rearrangement of WHSC1. (gsk-3inhibitors.com)
  • In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
  • Missense pathogenic variants appear to be responsible for Coffin-Siris syndrome whereas nonsense, splicing, indels, small insertions and deletion variants are reportedly responsible for SCCOHT and rhabdoid tumor predisposition syndrome (Human Gene Mutation Database). (preventiongenetics.com)
  • The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
  • This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue. (preventiongenetics.com)
  • For instance, at least 36 DNA repair enzymes, when mutationally defective in germ line cells, cause increased risk of cancer (hereditary cancer syndromes). (wikipedia.org)
  • Germ-line mutations in the human MSH2 ( hMSH2 ) gene account for about 40% of known defects in kindreds with hereditary nonpolyposis colon cancer. (aacrjournals.org)
  • However, the apparent `irrationality of introns' (I. Eperon, http://www.eurasnet.info/ian_eperon.shtml ) was questioned early on following the discovery that mutations that affect splicing, quantitatively or qualitatively, are a widespread source of hereditary diseases. (biologists.com)
  • Mutations in the fourth subunit of mitochondrial complex II, SDHA , have yet to be demonstrated in hereditary paraganglioma. (bmj.com)
  • Over 25 mutations in SDHD and 25 mutations in SDHB have been detected in hereditary paraganglioma, including those reviewed by Baysal 1 and the more recent additions of multiple mutations in SDHB 4- 6 and SDHD . (bmj.com)
  • These findings indicate that the relative contribution of complex II subunit mutations to hereditary paraganglioma is not similar and may reflect currently unrecognised aspects of complex II biology. (bmj.com)
  • In hereditary cases (40%), there is a germline RB1 mutation present in constitutional cells and predisposition to RB is transmitted as an autosomal dominant trait. (paojournal.com)
  • In non-hereditary cases (60%), there are two distinct RB1 mutations acquired in both RB1 alleles that occur in somatic cells. (paojournal.com)
  • Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
  • Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, some families with Turcot syndrome, and attenuated adenomatous polyposis coli (AAPC). (medscape.com)
  • Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. (spandidos-publications.com)
  • Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)
  • At least 80 different mutations have been identified. (medscape.com)
  • Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
  • Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
  • The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. (spandidos-publications.com)
  • CF is caused by biallelic pathogenic mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR ), which is mostly expressed in epithelial cells functioning as a chloride channel protein. (biomedcentral.com)
  • In 57 women (24.9%) we detected a pathogenic mutation, with a higher frequency (29.7%) in the group manifesting cancer before 60 years. (biomedcentral.com)
  • The finding of causative monoallelic (autosomal dominant) or biallelic (autosomal recessive) germline pathogenic variations (PVs) is crucial in order to make an accurate diagnosis which in turn is the prerequisite for tailoring the optimal surveillance program for each patient. (biomedcentral.com)
  • Landscape of pathogenic mutations in premature ovarian insufficiency. (cdc.gov)
  • Deleterious BRCA2 mutations occurred in 5.7% of patients, all but one (c.1813dupA) being unique. (biomedcentral.com)
  • Four variants (p.Y109D, p.I203F, p.D572E, and exon 2-3 deletion) were novel, which expanded the mutation spectrum of Chinese CF patients. (biomedcentral.com)
  • There were 3 very frequent mutations: a cytosine duplication in a C 8 mononucleotide stretch within exon 11 (c.1285dupC), followed by a four-base pair deletion in exon 13 (c.1533_1536delGATG) and a seven-base pair duplication in exon 12 (c.1347_1353dupCCACCCT). (scienceblog.com)
  • Among the entire cohort of 312 more than 70 % presented with pneumothorax with initial episodes ranging from 15 to 69 years old.The incidence of RCCs in the FLCN mutation carriers over the age of 40 was 34.8% and the exon 11 mutation (c.1285dupC) exhibited the highest RCC frequency. (scienceblog.com)
  • Molecular analysis revealed a novel deletion mutation (c.57_58delCT) in exon 4 of the FLCN gene and confirmed this case as BHD Syndrome. (scienceblog.com)
  • The discovery of de novo gain-of-function (GOF) mutations in IL-1 activating inflammasomes (NLRP3, NLRC4, pyrin, and NLRP1) and Type-1 IFN activating viral sensors (STING, RIG-I, and IFIH1/MDA5) linked key innate immune pathways to sterile inflammation. (nature.com)
  • In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. (biomedcentral.com)
  • we performed both clinical and molecular diagnosis identifying a de novo mutation. (biomedcentral.com)
  • It has been linked to mutations within exons 6-10 in the NBS1 gene which results in a truncated protein. (wikipedia.org)
  • Mutations of the APC gene result in a truncated/nonfunctional protein. (medscape.com)
  • We describe a simple fusion protein assay for detection of hMSH2 nonsense mutations in yeast. (aacrjournals.org)
  • We show that treatment of cells with the translation inhibitor puromycin suppresses nonsense-mediated decay and facilitates the detection of nonsense mutations in clinical samples by cDNA sequencing, in vitro protein truncation tests, and the yeast fusion protein assay. (aacrjournals.org)
  • ADE2 fusion protein assay also detects some in-frame mutations, presumably through an effect on the folding of the fusion protein. (aacrjournals.org)
  • focused on another gene called UPF1 because cells without the protein encoded by this gene have similar defects in nonsense-mediated decay as cells with active DUX4 . (elifesciences.org)
  • The experiments show that the protein encoded by UPF1 is broken down as a result of the activation of the DUX4 gene, leading to problems with nonsense-mediated decay, which may result in the worsening of FSHD symptoms. (elifesciences.org)
  • Scope includes mutations and abnormal protein expression. (cancerindex.org)
  • Most mutations in the gene are 'truncating': in the main these induce premature termination codons, resulting in nonsense-mediated decay, loss of the transcript and/or the entire protein. (biomedcentral.com)
  • These are chiefly missense mutations, introducing an amino acid change in the context of an expressed protein. (biomedcentral.com)
  • Nevertheless its function is nearly generally compromised in tumor cells through gene mutation deletion epigenetic protein or silencing degradation.1 Using the evolvement from the cognition Lopinavir upon this protein various evidence concur that mutant p53 proteins not merely get rid of their tumor-suppressive function and find dominant-negative activities but also gain new oncogenic properties that are separate of wild-type p53. (mdm2-inhibitors.com)
  • Because the molecular basis of the parent of origin effects in PGL1 is unknown, it is unclear whether transmissions of mutations in SDHC , the protein product of which couples with that of SDHD and forms the membrane spanning domain of mitochondrial complex II, also shows any parent of origin effects. (bmj.com)
  • All 27 exons contribute to the 2.7 kb open reading frame which codes for a 110 KDa nuclear phosphoprotein known as pRB.8 pRB functions as a regulator of cellular replication.9 Any mutation in exons 13-21 of the RB1 gene, which code for the functional domain of the protein, will result in reduced function of pRB. (paojournal.com)
  • Whether the mutation translates into a pRB protein product that is either totally absent, present but with total loss of function, or abnormal but with some residual function, determine the severity of the disease. (paojournal.com)
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • Within this cohort we compared the number of mutation carriers fulfilling clinical selection criteria with the total number of carriers identified. (biomedcentral.com)
  • Remarkably, neither of the ATM , RAD51D , CHEK2 and PALB2 mutation carriers had a family history. (biomedcentral.com)
  • Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT. (neurology.org)
  • Chromosomal mutations: changes in chromosome number or structure. (manchester.ac.uk)
  • HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex ( ADTB3A ), which resides on chromosome 5. (medscape.com)
  • In total, 58 mutations were identified including 14 novel, previously unreported variants. (eurjbreasthealth.com)
  • We identified and characterized the type of mutations in exons 13-21 of the RB1 gene by polymerase chain reaction (PCR) amplification and sequencing and correlated the mutations with patients' clinical presentation and family history. (paojournal.com)
  • Inactivation of the remaining normal copy of the APC gene, by deletion or mutation, completely removes the tumor suppressive function of APC, thus initiating the growth of adenomatous polyps. (medscape.com)
  • To date, over 600 mutations are described in the human gene mutation database ( http://www.hgmd.org ) as causative of FD. (biomedcentral.com)
  • Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. (nih.gov)
  • Note the presence of numerous synchronous adenomatous polyps lining the luminal surface. (medscape.com)
  • SCCOHT is an autosomal dominant disease caused by mutations in the SMARCA4 gene (Witkowski et al. (preventiongenetics.com)
  • Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. (biomedcentral.com)
  • All nine mutations led to premature termination producing shortened proteins. (ewha.ac.kr)
  • Mutations in cis-acting splicing elements or changes in the activity of constitutive or alternative splicing could have a profound regulatory proteins that compromise the accuracy of either impact on human pathogenesis, in particular in tumor development and progression. (biologists.com)
  • Some patients with RB exhibit reduced expressivity, such as in 15% of unilateral and non-familial cases that actually have germline mutations. (paojournal.com)
  • 8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)
  • Detection of nonsense mutations with this assay is severely compromised in many cases by nonsense-mediated mRNA decay, a physiological process that destabilizes the mutant RNA. (aacrjournals.org)
  • Triggering of nonsense-mediated decay requires mRNA scanning by the ribosome to detect the stop codon. (aacrjournals.org)
  • We report that DUX4-triggered proteolytic degradation of UPF1, a central component of the nonsense-mediated decay (NMD) machinery, is associated with profound NMD inhibition, resulting in global accumulation of RNAs normally degraded as NMD substrates. (elifesciences.org)
  • show that when DUX4 is activated following the failure of epigenetic control in FSHD patients, the effectiveness of nonsense-mediated decay is also reduced. (elifesciences.org)
  • The twist in the tale is that DUX4 itself is also controlled by nonsense-mediated decay under normal circumstances. (elifesciences.org)
  • Therefore, in diseased cells, a failure in epigenetic control allows DUX4 to prevent its own destruction by tampering with nonsense-mediated decay. (elifesciences.org)
  • We not only initially focused on germline DNMs (gDNMs) but also systematically analyze postzygotic (i.e., somatic) DNMs (pzDNMs) later. (nature.com)
  • Mutations in SDHD cause PGL1 only if the transmission occurs paternally, whereas maternal transmission does not cause disease, 13 suggesting operation of genomic imprinting on SDHD . (bmj.com)
  • Although FLNA and FLNB are very similar to one another, their human mutations at different genomic positions result in a wide variety of clinical phenotypes. (encyclopedia.pub)
  • Its mutation/inactivation is the initial step in the development of colorectal cancer in patients with FAP. (medscape.com)
  • Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)
  • Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)
  • performed a primary comparison from the in vitro level of sensitivity of each technique, using the same anti-cancer scFv fragments, aimed against a tumor-specific glycopeptide epitope Atractylodin for the sialomucin-like transmembrane glycoprotein OTS8, which outcomes type a cancer-specific mutation of Cosmc. (techieindex.net)
  • As novel FLCN mutations are still being identified all over the world, to add to the 152 already listed in LOVD-hosted FLCN mutation database , it is possible that different populations might have different prevalence of symptoms or specific mutations. (scienceblog.com)
  • Penetrance of complex II mutations shows peculiar characteristics. (bmj.com)
  • The expressivity and penetrance of RB depend on the functional consequence of the predisposing RB1 mutation. (paojournal.com)
  • One such mutation is associated with Nijmegen breakage syndrome (NBS), a radiation hyper-sensitive disease. (wikipedia.org)
  • Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, including the Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. (biomedcentral.com)
  • A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation. (scienceblog.com)
  • The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. (biomedcentral.com)
  • Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. (biomedcentral.com)
  • The clinical manifestations and mutation spectrum have been well characterized in Caucasians. (biomedcentral.com)
  • Limited data showed that Chinese CF patients have a disposition to present atypical symptoms, mainly displaying pulmonary manifestations with fewer digestive symptoms, and showed a different CFTR mutation spectrum. (biomedcentral.com)
  • Two patients with truncating mutations had liver fibrosis that in one patient resolved on treatment with the Src kinase inhibitor dasatinib. (nature.com)
  • 3, 10 However, analyses of SDHC in four series of patients with paraganglioma or pheochromocytoma 6, 8, 11, 12 yielded no definitive SDHC mutations. (bmj.com)
  • One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
  • Mutations were identified in 72% of patients with classical RTT and one third of atypical cases studied (8 of 25). (neurology.org)