Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2022.01.007
Abstract: BACKGROUND We found a large family with familial hypercholesterolemia (FH) that included 7 siblings who all developed myocardial infarction. OBJECTIVE The aim of this study was to identify the pathogenic gene underlying FH in the… read more here.
Keywords: large family; duplication; ldlr gene; family familial ... See more keywords
Identification and characterization of a large family of superbinding bacterial SH2 domains
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-06943-2
Abstract: Src homology 2 (SH2) domains play a critical role in signal transduction in mammalian cells by binding to phosphorylated Tyr (pTyr). Apart from a few isolated cases in viruses, no functional SH2 domain has been… read more here.
Keywords: sh2 domains; bacterial sh2; sh2; large family ... See more keywords
A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-07730-7
Abstract: Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated… read more here.
Keywords: disc anomalies; large family; optic disc; locus ... See more keywords
Violence and precarity: A neglected cause of large family sizes in Pakistan.
Sign Up to like & getrecommendations! Published in 2021 at "Global public health"
DOI: 10.1080/17441692.2021.1879894
Abstract: ABSTRACT A key objective of Pakistan's family planning program has been to increase awareness of the benefits of a small family. Despite five decades of effort, family size ideals of four children persist. Research suggests… read more here.
Keywords: family sizes; family; family size; large family ... See more keywords
Low-Hit-Zone Frequency/Time Hopping Sequence Sets With Large Family Size
Sign Up to like & getrecommendations! Published in 2019 at "IEEE Access"
DOI: 10.1109/access.2019.2959718
Abstract: For a quasi-synchronous frequency/time hopping (FH/TH) code-division multiple-access (CDMA) system which involves many users, the low-hit-zone (LHZ) FH/TH sequence set with large family size is necessary. In this paper, an upper bound on the family… read more here.
Keywords: sequence sets; sequence; family size; large family ... See more keywords
O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1111/nan.12846
Abstract: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness… read more here.
Keywords: dysf variant; dominantly inherited; dysf; large family ... See more keywords
Identification and characterization of a large family of superbinding bacterial SH2 domains.
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.2210/pdb6e8k/pdb
Abstract: Src homology 2 (SH2) domains play a critical role in signal transduction in mammalian cells by binding to phosphorylated Tyr (pTyr). Apart from a few isolated cases in viruses, no functional SH2 domain has been… read more here.
Keywords: sh2 domains; bacterial sh2; sh2; large family ... See more keywords