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Mashup Score: 1Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel - 10 month(s) ago
Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in individuals of European (EUR) ancestry, and the generalisation of EUR-based PRS to other populations is a major challenge. In this study, we examined the performance of EUR-based BC PRS models in Ashkenazi…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 0A multilayered approach to the analysis of genetic data from individuals with suspected albinism - 10 month(s) ago
Albinism is a clinically and genetically heterogeneous group of conditions characterised by visual abnormalities and variable degrees of hypopigmentation. Multiple studies have demonstrated the clinical utility of genetic investigations in individuals with suspected albinism. Despite this, the variation in the provision of genetic testing for albinism remains significant. One key issue is the…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
New paper highlights #albinism, the clinical field where "rare-meets-commmon" disease genetics, requiring multilayered analysis ➡️ clarifies longstanding debate re: impact of TYR c.1205G>A (p.Arg402Gln) OpenAccess: https://t.co/yIxZvLpbLf @ewanbirney @RetinaUK @fightforsightUK https://t.co/W70qTUMCPf
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Mashup Score: 0Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases - 10 month(s) ago
Background Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase ( mut type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of mut -type MMA in Chinese patients. Methods We recruited 365 patients with mut -type MMA; investigated their disease onset, newborn screening…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
New cohort study of mut-type #MethylmalonicAcidemia: - clinical - biochemical - genotype - prognosis in 365 Chinese cases ➡️ https://t.co/GoK1WvA2M6 #NewbornScreening #Metabolic Pic: Manasa Shetty https://t.co/02kUQy62TH
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Mashup Score: 1Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis - 10 month(s) ago
Background Alström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and extraciliary processes, such as centrosome cohesion, apoptosis, cell cycle control and receptor trafficking. The type of variant associated with ALMS is…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
#Alström syndrome: - location of the ALMS1 variant does not majorly impact the phenotype, - those in exon 10 associated with a higher prevalence of liver disease OpenAccess https://t.co/tn0wVuXIoV @MascatB @AS_UK #RareDisease #MedicalGenetics #Genomics https://t.co/EJJPBCIfVk
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Mashup Score: 0
Background Helios (encoded by IKZF2 ), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4+ regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Dominant -ve IKZF2 variants cause ICHAD syndrome 👇 https://t.co/qflox0ct9P I mmunodysregulation C raniofacial H earing impairment A thelia D evelopmental delay @vaseghi_maryam, @TurveyLab, @CatherineMBiggs, @KylaHildebrand1, @UBCmedicine, @BCCHresearch, @BCCHF #MorbidGene https://t.co/1xyhBGnq47
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Mashup Score: 0Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome - 11 month(s) ago
Background Polygenic risk scores (PRSs) have been used to stratify colorectal cancer (CRC) risk in the general population, whereas its role in Lynch syndrome (LS), the most common type of hereditary CRC, is still conflicting. We aimed to assess the ability of PRS to refine CRC risk prediction in European-descendant individuals with LS. Methods 1465 individuals with LS (557 MLH1 , 517 MSH2/EPCAM…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
There is variability in #BowelCancer age within #LynchSyndrome families 📈 New study shows there is only WEAK association between #PRS & multiple/young cases ➡️ https://t.co/pHV317AYQz @NDuenas5 @BrunetJbrunet @hannah_klink @MartaPinedaRiu @geneticcounsel @LValleResearch https://t.co/G68j5tubxU
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Mashup Score: 0Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C - 11 month(s) ago
Background RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic pathogenic variants in POLR3A , POLR3B , POLR1C or POLR3K . Craniofacial abnormalities reminiscent of Treacher Collins syndrome have been…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
First study to explore and assess the craniofacial features of POLR3-related #leukodystrophy (POLR3A, POLR3B, POLR1C), proposing genotype–phenotype correlations OpenAccess: https://t.co/mRop9YKZCy #Genetics #Genomics #RareDisease https://t.co/8eHmhIk6lU
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Mashup Score: 0Genetic features and kidney morphological changes in women with X-linked Alport syndrome - 11 month(s) ago
Background X-linked Alport syndrome (XLAS) caused by COL4A5 pathogenic variants usually has heterogeneous phenotypes in female patients. The genetic characteristics and glomerular basement membrane (GBM) morphological changes in women with XLAS need to been further investigated. Methods A total of 83 women and 187 men with causative COL4A5 variants were enrolled for comparative…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
XL Alport (COL4A5) has heterogeneous phenotype New study (https://t.co/6BYrDsqrGt) finds ♀️ have higher incidence of de novo variants & co-inherited podocyte gene variants & degree of GBM lesions related to ⬇️ in kidney function, #Nephrology #Renal #RareDisease Pic: LibreText https://t.co/TGWaxYVaC0
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Mashup Score: 0Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant - 11 month(s) ago
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability. Methods A clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygous TRAPPC11 c.1287+5G>A variant is…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
TRAPPopathies lead to deranged cellular trafficking & autophagy ▶️New study TRAPPC11◀️ 25 Roma individuals homozygous for founder variant - Early onset muscle weakness, movement disorders, ID, epilepsy ⬆️CK OpenAccess https://t.co/n05YvxYyKs #RareDisease @PochMaris https://t.co/BK5udLTAXR
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Mashup Score: 0HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element - 11 month(s) ago
Background Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations of survival of motor neuron 1 (SMN1 ) gene, which encodes the SMN protein. SMN2 , a nearly identical copy of SMN1 , with several single-nucleotide substitutions leading to predominant skipping of its exon 7, is insufficient to compensate for loss of SMN1 . Heterogeneous nuclear ribonucleoprotein R (hnRNPR) has…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Researchers identified novel mechanism that contributes to mis-splicing of SMN2 exon 7 https://t.co/UOjlwKhZEv HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element @CureSMA @SMANewsToday https://t.co/N8rgG94ML5
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🔯📈 Evaluation of European-based #Polygenic risk score for #BreastCancer in Ashkenazi Jewish (AJ) women in Israel ➡️ PRSs based on European GWAS data *can* identify AJ women with elevated risk of BC OpenAccess: https://t.co/JKBPUAB0n8 @ShaiCarmi @KyrMichailidou @JneticsUK https://t.co/aVk9WpWJwn