El Blog de SEBIGEC
Noticias y artículos de bioquímica y genética humana
Noticias
- Gene’s role in attaining and maintaining muscle mass revealed in new study
- Web-based resource provides precise classification of dual genome variants of primary mitochondrial disease
- New assay identifies clinically relevant gene fusions in pediatric tumors more accurately and efficiently
- Una técnica pionera revela una nueva capa de regulación genética humana
- Hallazgo relevante de casi un millón de nuevos exones en el genoma humano
- Identifican nuevas variantes genéticas específicas de cada sexo en la enfermedad renal
- New sex-specific genetic variants for chronic kidney disease identified
- Researchers discover inherited genetic mutations can predict interval breast cancer
- Test y asesoramiento genético, ‘armas’ para cáncer de mama hereditario
- Researchers trace a form of lupus back to a single mutation
- New genetic findings offer therapeutic approaches for incurable autoimmune disease SLE
- Newly identified genes for depression may lead to new treatments
- Ancient DNA reveals reason for high multiple sclerosis and Alzheimer’s rates in Europe
- This One Microglia Mutation Could Triple Your Alzheimer’s Risk – Here’s Why
- Research discovers gene that links deafness to inner ear cell death
- Study reveals crucial ‘housekeeping’ genetic elements and their potential to fight cancer
Artículos
- Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effectsAnnals of Human Genetics, Volume 88, Issue 6, Page 445-454, November 2024.
- Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long‐distance athletes: A retrospective studyAnnals of Human Genetics, Volume 88, Issue 6, Page 414-422, November 2024.
- Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in PakistanAnnals of Human Genetics, Volume 88, Issue 6, Page 399-401, November 2024.
- Issue InformationAnnals of Human Genetics, Volume 88, Issue 6, November 2024.
- Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta‐analysis and Mendelian randomization studyAnnals of Human Genetics, Volume 88, Issue 6, Page 423-435, November 2024.
- Population‐genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of IranAnnals of Human Genetics, Volume 88, Issue 6, Page 402-413, November 2024.
- Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancerAnnals of Human Genetics, Volume 88, Issue 6, Page 436-444, November 2024.
- Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stutteringAnnals of Human Genetics, EarlyView.
- DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndromeAnnals of Human Genetics, EarlyView.
- Traces of Bronze Age globalization in East Asia: Insights from a revised phylogeography of the Y‐chromosome haplogroup Q1a1a‐M120Annals of Human Genetics, EarlyView.
- Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese familiesAnnals of Human Genetics, EarlyView.
- The molecular basis of lactase persistence: Linking genetics and epigeneticsAnnals of Human Genetics, EarlyView.
- First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variantsAnnals of Human Genetics, EarlyView.
- Methods for multiancestry genome‐wide association study meta‐analysisAnnals of Human Genetics, EarlyView.
- Investigating the effectiveness of forensic genetics and population genetic diversity using a multi‐InDel system in Chinese Hezhou and Southern Shaanxi Han populationsAnnals of Human Genetics, EarlyView.
- Epithelial–mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North AfricaAnnals of Human Genetics, EarlyView.
- Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African populationAnnals of Human Genetics, EarlyView.
- A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenicsAnnals of Human Genetics, EarlyView.
- An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan AfricaAnnals of Human Genetics, EarlyView.
- The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomicsAnnals of Human Genetics, EarlyView.
- Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization studyAnnals of Human Genetics, EarlyView.
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literatureThe leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy…
- Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancyImpaired nitric oxide (NO) formation may be associated with endothelial dysfunction and increased cardiovascular disease risk in preeclampsia (PE). Functional single-nucleotide polymorphisms (SNPs) of nitric oxide synthase 3 (NOS3) (rs3918226) and guan…
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainabilityEuropean Journal of Human Genetics, Published online: 20 February 2024; doi:10.1038/s41431-024-01555-5What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
- Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowthEuropean Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01563-5Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
- Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and TanzaniaEuropean Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01553-7Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01562-6Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
- Expansion of the neurodevelopmental phenotype of individuals with <i>EEF1A2</i> variants and genotype-phenotype studyEuropean Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01560-8Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
- The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarationsEuropean Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01549-3The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
- Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathwayEuropean Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagno…
- Thirty-year of genetic counselling education in Europe: a growing professional area
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01552-8Thirty-year of genetic counselling education in Europe: a growing professional area - Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense <i>KANSL1</i> variants and comparison to fibroblast cellsEuropean Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01561-7Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and compar…
- Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewClassic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychologi…
- Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease
- Ethical and social reflections on the proposed European Health Data SpaceEuropean Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01543-9Ethical and social reflections on the proposed European Health Data Space
- The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancerEuropean Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01551-9The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
- Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications on diagnosis, prognosis, and therapeutic decis… - Editorial Board
- Table of Contents
- Identification of the DNA methylation signature of Mowat-Wilson syndrome
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01548-4Identification of the DNA methylation signature of Mowat-Wilson syndrome - Expanding the phenotypic spectrum of <i>LIG4</i> pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueductEuropean Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01558-2Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of th…
- Overcoming barriers to equitable genomic healthcareEuropean Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01557-3Overcoming barriers to equitable genomic healthcare
- Phenotypic compatibility and specificity in genomic variant classificationEuropean Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01554-6Phenotypic compatibility and specificity in genomic variant classification
- Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorderPogo transposable element-derived protein with ZNF domain (POGZ) gene encodes a chromatin regulator and rare variants on this gene have been associated with a broad spectrum of neurodevelopmental disorders, such as White-Sutton syndrome. Patient clinic…
- Enhancing Trypanosomatids Identification and Genotyping with Oxford Nanopore Sequencing: Development and Validation of an 18S rRNAs Amplicon-Based Method.Trypanosomatids, including Trypanosoma and Leishmania species, present significant medical and veterinary challenges causing substantial economic losses, health complications, and even fatalities. Diagnosing and genotyping these species and their genot…
- Comprehensive genomic analysis identifies a diverse landscape of sideroblastic and non-sideroblastic iron related anemias with novel and pathogenic variants in an iron deficient endemic settingInherited iron metabolism defects are possibly missed or underdiagnosed in iron-deficient endemic settings due to a lack of awareness or a methodical screening approach. Hence, we planned a systematic evaluation of anemia cases (2019-2021) based on cli…
- Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing AnalysisSeveral in silico annotation-based methods have been developed to prioritize variants in exome sequencing analysis. This study introduces a novel metric, the Significance Associated with Phenotypes (SAP) score, which generates a statistical score by co…
- Spectrum of genetic variants in bilateral sensorineural hearing loss
Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified t… - Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndromeIntroduction: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited disorder. This study was aimed to identify and functionally validate FOXL2 variants in two Chinese families with BPES.Methods: The proband and his famil…
- MECP2-related disorders while gene-based therapies are on the horizonThe emergence of new genetic tools has led to the discovery of the genetic bases of many intellectual and developmental disabilities. This creates exciting opportunities for research and treatment development, and a few genetic disorders (e.g., spinal …
- Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
Annals of Human Genetics, Volume 88, Issue 2, Page 113-125, March 2024. - The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)Annals of Human Genetics, Volume 88, Issue 2, Page 171-181, March 2024.
- Issue InformationAnnals of Human Genetics, Volume 88, Issue 2, March 2024.
- An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expressionAnnals of Human Genetics, Volume 88, Issue 2, Page 126-137, March 2024.
- Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South KoreaAnnals of Human Genetics, Volume 88, Issue 2, Page 101-112, March 2024.
- A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious pubertyAnnals of Human Genetics, Volume 88, Issue 2, Page 138-153, March 2024.
- The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish populationAnnals of Human Genetics, Volume 88, Issue 2, Page 154-170, March 2024.
- Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
BackgroundThe association between the TDRD6 variants and human infertility remains unclear, as only one homozygous missense variant of TDRD6 was found to be associated with oligoasthenoteratozoospermia (OAT).MethodsWhole-exome sequencing and Sanger seq… - Case report: Preimplantation genetic testing for infantile GM1 gangliosidosisGanglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency o…
- CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study
CYP2A6, a genetically variable enzyme, inactivates nicotine, activates carcinogens, and metabolizes many pharmaceuticals. Variation in CYP2A6 influences smoking behaviors and tobacco-related disease risk. This phenome-wide association study examined associations between a reconstructed version of our weighted… Lee más: CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study