Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies [PDF]
Frontiers in Genetics, 2022 External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, vertebral, and rib anomalies, caused by homozygous mutations in the myogenic factor ...
Qianqian Li +8 more
doaj +2 more sources
Chromosome numbers for the Italian flora: 12 [PDF]
Italian Botanist, 2021 In this contribution, new chromosome data obtained on material collected in Italy are presented. It includes the first counts for Hieracium glanduliferum s.str. and H.
Giovanni Astuti +7 more
doaj +7 more sources
Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12 [PDF]
Frontiers in Aging NeuroscienceIntroductionHispanic/Latino populations are underrepresented in Alzheimer Disease (AD) genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and Amerindian) population is the second-largest Hispanic group in the continental US.
Bilcag Akgun +35 more
doaj +2 more sources
Narrowing the wingless-2 mutation to a 227 kb candidate region on chicken chromosome 12. [PDF]
Poult Sci, 2018 Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather ...
Webb AE +7 more
europepmc +3 more sources
Improved reconstruction and comparative analysis of chromosome 12 to rectify Mis-assemblies in Gossypium arboreum [PDF]
BMC Genomics, 2020 Background Genome sequencing technologies have been improved at an exponential pace but precise chromosome-scale genome assembly still remains a great challenge. The draft genome of cultivated G.
Javaria Ashraf +10 more
doaj +2 more sources
The Iraqi Journal of Medical Sciences, 2021 Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
doaj +9 more sources
Genes Encoding Recognition of the Cladosporium fulvum Effector Protein Ecp5 Are Encoded at Several Loci in the Tomato Genome [PDF]
, 2020 The molecular interactions between tomato and Cladosporium fulvum have been an important model for molecular plant pathology. Complex genetic loci on tomato chromosomes 1 and 6 harbor genes for resistance to Cladosporium fulvum, encoding receptor like ...
Bailey +6 more
core +1 more source
Genomic prediction and quantitative trait locus discovery in a cassava training population constructed from multiple breeding stages [PDF]
, 2020 Open Access Article; Published online: 11 Dec 2019Assembly of a training population (TP) is an important component of effective genomic selection‐based breeding programs.
Egesi, C. +11 more
core +1 more source
Somatic chromosome counts and karyomorphological analysis of 12 Allium (Amaryllidaceae) taxa
Journal of Asia-Pacific Biodiversity, 2023 The genus Allium is a well-known model system for cytological research, and its cytological characteristics are considered important for species identification.
Yeseul Kim +6 more
doaj +1 more source
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Molecular Genetics & Genomic Medicine, 2020 Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features.
Lynnea Myers +11 more
doaj +1 more source