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Specialty: Genetics & Stem Cells

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Total 60 results found since Jan 2013.

Dyslexia-related loci are significantly associated with language and literacy in Chinese –English bilingual Hong Kong Chinese twins
This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese –English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (r2 = 0.995), and some genetic overlaps in word reading and spelling (r2 = 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (n = 305–308) and the within-twin level (n = 342–344 [171–1...
Source: Human Genetics - September 5, 2023 Category: Genetics & Stem Cells Source Type: research

Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity
Attention deficit hyperactivity disorder (ADHD) is commonly associated with developmental dyslexia (DD), which are both prevalent and complicated pediatric neurodevelopmental disorders that have a significant ...
Source: BMC Medical Genomics - September 4, 2023 Category: Genetics & Stem Cells Authors: HE Hongyao, JI Chun, Gao Xiaoyan, Liu Fangfang, Zhang Jing, Zhong Lin, Zuo Pengxiang and Li Zengchun Tags: Research Source Type: research

Genes, Vol. 13, Pages 1926: Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
Corrado Romano The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Fur...
Source: Genes - October 23, 2022 Category: Genetics & Stem Cells Authors: Ornella Galesi Francesco Domenico Di Blasi Lucia Grillo Flaviana Elia Maria Concetta Giambirtone Maria Grazia Figura Biagio Rizzo Serafino Buono Corrado Romano Tags: Case Report Source Type: research

Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review
We report on two unrelated patients with DCDC2-related NSC with additional central nervous system impairment manifesting as microcephaly, global developmental delay, and axial hypotonia. Histological findings of our patients can mimic biliary atresia or congenital hepatic fibrosis. We further show that transmission electron microscopy in patients with NSC does not always show absence of primary cilia. Hence patients with DCDC2 pathogenic variants should also undergo an evaluation of neuromotor development. Review of all reported patients further reveals a risk for supra-aortic arterial aneurysms.PMID:34155636 | DOI:10.1111/cge.14012
Source: Clinical Genetics - June 22, 2021 Category: Genetics & Stem Cells Authors: Hannes Syryn Anne Hoorens Tassos Grammatikopoulos Maesha Deheragoda Sofie Symoens Saskia Vande Velde Stephanie Van Biervliet Myriam Van Winckel Patrick Verloo Bert Callewaert Ruth De Bruyne Source Type: research

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family
AbstractDyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 ...
Source: Human Genetics - June 2, 2021 Category: Genetics & Stem Cells Source Type: research

Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition RESOURCES
The human brain differs from that of other primates, but the genetic basis of these differences remains unclear. We investigated the evolutionary pressures acting on almost all human protein-coding genes (N = 11,667; 1:1 orthologs in primates) based on their divergence from those of early hominins, such as Neanderthals, and non-human primates. We confirm that genes encoding brain-related proteins are among the most strongly conserved protein-coding genes in the human genome. Combining our evolutionary pressure metrics for the protein-coding genome with recent data sets, we found that this conservation applied to genes func...
Source: Genome Research - March 1, 2021 Category: Genetics & Stem Cells Authors: Dumas, G., Malesys, S., Bourgeron, T. Tags: RESOURCES Source Type: research

A genetic window to auditory-verbal problems in bipolar disorder
Bipolar disorder is a high prevalent psychiatric condition entailing recurrent episodes of elevated mood and depression, but also diverse cognitive problems. One deficit observed in patients concerns to auditory-verbal processing. Being a hereditary condition with a complex genetic architecture, it is not clear which genes contribute to this deficit. We show that candidates for bipolar disorder significantly overlap with candidates for clinical conditions resulting from a deficit in the phonological loop of working memory, particularly, developmental dyslexia and specific language impairment. The overlapping genes are invo...
Source: Psychiatric Genetics - November 14, 2020 Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research

Genes, Vol. 11, Pages 658: Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
obori Dyslexia, or reading disability, is found to have a genetic basis, and several related genes have been reported. We investigated whether natural selection has acted on single nucleotide polymorphisms (SNPs) that were reported to be associated with risk/non-risk for the reading disability of Chinese characters. We applied recently developed 2D SFS-based statistics to SNP data of East Asian populations to examine whether there is any sign of selective sweep. While neutrality was not rejected for most SNPs, significant signs of selection were detected for two linkage disequilibrium (LD) regions containing the report...
Source: Genes - June 16, 2020 Category: Genetics & Stem Cells Authors: Kumiko V. Nishiyama Yoko Satta Jun Gojobori Tags: Article Source Type: research

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...
Source: BMC Medical Genetics - May 1, 2020 Category: Genetics & Stem Cells Authors: Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere and Isabel Tapia-P áez Tags: Case report Source Type: research

The Association of Dyslexia and Developmental Speech and Language Disorder Candidate Genes with Reading and Language Abilities in Adults.
Abstract Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7-73.2 years of age, N = 1505) in which we obtained data using validated measures ...
Source: Twin Research and Human Genetics - April 5, 2020 Category: Genetics & Stem Cells Authors: Doust C, Gordon SD, Garden N, Fisher SE, Martin NG, Bates TC, Luciano M Tags: Twin Res Hum Genet Source Type: research

Language impairment in primary progressive aphasia and other neurodegenerative diseases.
Abstract Primary progressive aphasia (PPA) is a progressive neurodegenerative disease that disrupts the language capacity of an individual by selectively affecting the language network of brain. Although aphasic literature is replete with reports of brain damage responsible for various types of PPA, it does not provide a comprehensive understanding of whether PPA is an independent pathological condition or an atypical syndrome of neurodegenerative diseases (NDD). To address this ambiguity, we provide a detailed description of PPA, its variants and their brain anatomy. Subsequently, we unravel the relationship betw...
Source: Journal of Genetics - October 31, 2019 Category: Genetics & Stem Cells Authors: Rahul DR, Joseph Ponniah R Tags: J Genet Source Type: research