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Mashup Score: 2Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants - 2 year(s) ago
Background Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no cure. More than 50 genes and genetic loci have been linked to PL. We sought to study systematically cell polarity signalling protein Cadherin Epidermal Growth…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 4A model for the return and referral of all clinically significant secondary findings of genomic sequencing - 2 year(s) ago
Secondary findings (SFs) identified through genomic sequencing (GS) can offer a wide range of health benefits to patients. Resource and capacity constraints pose a challenge to their clinical management; therefore, clinical workflows are needed to optimise the health benefits of SFs. In this paper, we describe a model we created for the return and referral of all clinically significant SFs,…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Worried about clinically significant secondary findings from genomic sequencing? Read this model from @yvonnebombard @sshickh @vandg_ on returning and managing these here ➡️ https://t.co/WGv5aLaIMg #GeneChat https://t.co/LxmVd1Msdf
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Mashup Score: 1
Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is an enzyme involved in the metabolism of branched chain amino acids and fatty acids. Mutations in the ECHS1 gene lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, resulting in the accumulation of intermediates of valine. This is one of the most common causative genes in mitochondrial diseases. While genetic analysis studies…
Source: Journal of Medical GeneticsCategories: General Medicine News, Latest HeadlinesTweet-
Novel high-efficiency assay promises rapid mitochondrial disease diagnosis https://t.co/DoPHn5eRIl https://t.co/isVjh8SNPf
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Mashup Score: 0
Background Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. Methods After a previous whole-exome sequencing…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
👀 Previously "online first" in press last week 📖 Germline mutations in WNK2 affect #MAPK pathway & may be associated with serrated #polyposis OpenAccess: https://t.co/SYr7fukD26 #Cancer #CancerGenetics @LValleResearch @laiabonjoch @frankbalaguer @RMdeVoer @mdiazgay https://t.co/I5XTdVOJ4T
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Mashup Score: 0Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma - 2 year(s) ago
Introduction Only a small number of risk factors for pancreatic ductal adenocarcinoma (PDAC) has been established. Several studies identified a role of epigenetics and of deregulation of DNA methylation. DNA methylation is variable across a lifetime and in different tissues; nevertheless, its levels can be regulated by genetic variants like methylation quantitative trait loci (mQTLs), which can…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Polymorphic variants involved in #methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma https://t.co/RRRfwgAHMs #PancreaticCancer #Cancer #Genomics pic: @genome_gov https://t.co/9xF6psRnAu
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Mashup Score: 0TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma - 2 year(s) ago
Germline (likely) pathogenic TP53 variants cause Li-Fraumeni syndrome (LFS), typically associated with sarcoma, brain, breast and adrenal tumours. Although classical LFS is highly penetrant, the p.R337H variant, common in Brazil, is typically associated with childhood adrenal tumours and an older onset age of other LFS tumours. Previously, we reported the finding of p.P152L in 6 children from 5…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#TP53 c.455C>T p.(Pro152Leu) - a lower risk pathogenic variant - lower risks of breast cancer / sarcoma Read the paper: https://t.co/neYVMons6K @ER_Woodward @UKCGG pic: @theNCI #Genetics #CancerGenetics #LiFraumeni @LivingLFS @LFSAssociation @BeetsWhoTweets https://t.co/PktSiolakR
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Mashup Score: 6Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk - 2 year(s) ago
While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
InSiGHT position statement on APC I1307K https://t.co/2UTaq65KTN ▶️ Should be tested in Ashkenazi Jewish individuals - Pathogenic, but low penetrance ▶️ Not enough evidence outside this population @LValleResearch, @AndyLatchford, @PilarMurM, @Doctor_IMF, @bhealdleach https://t.co/wZF5Nr9clb
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Mashup Score: 1ARF1-related disorder: phenotypic and molecular spectrum - 2 year(s) ago
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1 -related neurodevelopmental disorder. Methods We collected detailed phenotypes of an international cohort of…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#ARF1-related disorder - an autosomal dominant, neuronal migration disorder entailing severe ID, microcephaly, seizures & PVNH 🔍 New #OpenAccess paper defines phenotypic & molecular spectrum https://t.co/p8w5hr9TTP @JMdeSteAgathe @alkuraya @husamia @WendyKChung @StottmannLab https://t.co/3UhCBUETtj
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Mashup Score: 0ARF1-related disorder: phenotypic and molecular spectrum - 2 year(s) ago
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1 -related neurodevelopmental disorder. Methods We collected detailed phenotypes of an international cohort of…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#ARF1-related disorder - an autosomal dominant, neuronal migration disorder entailing severe ID, microcephaly, seizures & PVNH 🔍 New #OpenAccess paper defines phenotypic & molecular spectrum https://t.co/p8w5hr9TTP @JMdeSteAgathe @alkuraya @husamia @WendyKChung @StottmannLab
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Mashup Score: 0Genotype and sleep independently predict mental health in Rett syndrome: an observational study - 2 year(s) ago
Background Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. Methods The International Rett Syndrome Database, InterRett, was the data source for this observational study. Associations between genotype, functional abilities,…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Genotype & sleep independently predict mental health in #Rett syndrome - Individuals with the p.Arg294* variant had the highest anxiety scores, as did those with insomnia or excessive daytime sleepiness. https://t.co/GPamUAh5nm #ClinicalGenetics #Genetics #Genomics https://t.co/PmH7N6EBaJ
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Ureteropelvic junction obstruction with primary #lymphoedema associated with CELSR1 variants New paper https://t.co/YGbuFO1vk8 @MiikkaVikkula @muratito @VACure1 #Renal #Urology #Nephrology #MedicalGeneticists Pic Ureteropelvic junction obstruction DOI:10.3390/diagnostics6010002 https://t.co/cKzXSZCArY