Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2004
Abstract: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long… read more here.
Keywords: dysplasia novel; novel genetic; genetic variant; dysplasia ... See more keywords
Novel genetic tools for probing individual H3 molecules in each nucleosome
Sign Up to like & getrecommendations! Published in 2018 at "Current Genetics"
DOI: 10.1007/s00294-018-0910-0
Abstract: In eukaryotes, genomic DNA is packaged into the nucleus together with histone proteins, forming chromatin. The fundamental repeating unit of chromatin is the nucleosome, a naturally symmetric structure that wraps DNA and is the substrate… read more here.
Keywords: individual molecules; novel genetic; genetic tools; molecules nucleosome ... See more keywords
Novel genetic loci associated with hippocampal volume
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/ncomms13624
Abstract: The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the… read more here.
Keywords: associated hippocampal; novel genetic; volume; hippocampal volume ... See more keywords
Novel genetic approaches to behavior in Drosophila
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2017.1395875
Abstract: Abstract The study of behavior requires manipulation of the controlling neural circuits. The fruit fly, Drosophila melanogaster, is an ideal model for studying behavior because of its relatively small brain and the numerous sophisticated genetic… read more here.
Keywords: genetic approaches; approaches behavior; novel genetic; behavior drosophila ... See more keywords
Novel genetic modules encoding high‐level antibiotic‐free protein expression in probiotic lactobacilli
Sign Up to like & getrecommendations! Published in 2023 at "Microbial Biotechnology"
DOI: 10.1111/1751-7915.14228
Abstract: Lactobacilli are ubiquitous in nature, often beneficially associated with animals as commensals and probiotics, and are extensively used in food fermentation. Due to this close-knit association, there is considerable interest to engineer them for healthcare… read more here.
Keywords: novel genetic; genetic modules; expression; level ... See more keywords
Novel Genetic Determinants of Dental Maturation in Children
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Dental Research"
DOI: 10.1177/00220345221132268
Abstract: Dental occlusion requires harmonious development of teeth, jaws, and other elements of the craniofacial complex, which are regulated by environmental and genetic factors. We performed the first genome-wide association study (GWAS) on dental development (DD)… read more here.
Keywords: genetic determinants; novel genetic; dental maturation; age ... See more keywords
Novel genetic polymorphisms associated with severe malaria and under selective pressure in North-eastern Tanzania
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007172
Abstract: Significant selection pressure has been exerted on the genomes of human populations exposed to Plasmodium falciparum infection, resulting in the acquisition of mechanisms of resistance against severe malarial disease. Many host genetic factors, including sickle… read more here.
Keywords: novel genetic; polymorphisms associated; genetic polymorphisms; severe malaria ... See more keywords
Identification of a Novel Genetic Variant Causing abca3 Surfactant Deficiency in a Newborn
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics"
DOI: 10.1542/peds.141.1_meetingabstract.748
Abstract: Background Surfactant is produced by alveolar type 2 cells and secreted into the alveoli to prevent atelectasis. Respiratory Distress Syndrome (RDS) is caused by surfactant deficiency due to immature lungs in premature infants. Congenital surfactant… read more here.
Keywords: novel genetic; variant causing; identification novel; genetic variant ... See more keywords
[Familial cavernous malformation secondary to a novel genetic mutation].
Sign Up to like & getrecommendations! Published in 2020 at "Revista de neurologia"
DOI: 10.33588/rn.7104.2020268
Abstract: Cavernomatosis familiar secundaria a una nueva mutación genética. read more here.
Keywords: novel genetic; secondary novel; genetic mutation; malformation secondary ... See more keywords
Novel Genetic Signatures Associated With Sporadic Amyotrophic Lateral Sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.851496
Abstract: Amyotrophic Lateral Sclerosis (ALS) is a complex polygenetic neurodegenerative disorder. Establishing a diagnosis for ALS is a challenging and lengthy process. By the time a diagnosis is made, the lifespan prognosis is only about two… read more here.
Keywords: associated sporadic; genetic signatures; novel genetic; lateral sclerosis ... See more keywords
Novel Genetic Diagnoses in Septo-Optic Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071165
Abstract: Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of… read more here.
Keywords: novel genetic; optic dysplasia; septo optic; genetic diagnoses ... See more keywords