Clinical variability at the mild end of BRAT1-related spectrum: evidence from two families with genotype-phenotype discordance.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24293
Abstract: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS),… read more here.
Keywords: clinical variability; brat1 related; genotype phenotype; two families ... See more keywords
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1895
Abstract: BACKGROUND Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal-dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations. However, the causes underlying polydactyly and syndactyly are not… read more here.
Keywords: gli3; two families; polydactyly syndactyly; gli3 variant ... See more keywords
Two Families of BCH Codes and New Quantum Codes
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Theoretical Physics"
DOI: 10.1007/s10773-019-04120-9
Abstract: In this paper, two families of Hermitian dual-containing Bose-Chau- dhuri-Hocquenghem (BCH) codes with length n=a⋅q2+12$n=a\cdot \frac {q^{2}+ 1}{2}$ and n = b (q2 + 1) are studied, where odd a∣(q − 1) for odd prime power q and… read more here.
Keywords: new quantum; families bch; codes new; two families ... See more keywords
Indecomposable decompositions of modular standard modules for two families of association schemes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Algebraic Combinatorics"
DOI: 10.1007/s10801-017-0758-2
Abstract: We investigate the indecomposable decomposition of the modular standard modules of two families of association schemes of finite order. First, we show that, for each prime number p, the standard module over a field F… read more here.
Keywords: modules two; association schemes; modular standard; two families ... See more keywords
From transglutaminases (TGs) to arylamine N-acetyltransferases (NATs): Insight into the role of a spatially conserved aromatic amino acid position in the active site of these two families of enzymes.
Sign Up to like & getrecommendations! Published in 2020 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2020.02.082
Abstract: Transglutaminases (TG) and arylamine N-acetyltransferases (NAT) are important family of enzymes. Although they catalyze different reactions and have distinct structures, these two families of enzymes share a spatially conserved catalytic triad (Cys, His, Asp residues).… read more here.
Keywords: two families; conserved aromatic; position; families enzymes ... See more keywords
Coexistence of schwannomatosis and glioblastoma in two families.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103680
Abstract: Schwannomatosis is a rare affection predisposing to multiple peripheral neurologic tumors development. Approximatively, one third of patients with schwannomatosis are carriers of a germline mutation in LZTR1 (Leucin Zipper Transcription Regulator 1). Tumorigenesis in schwannomatosis… read more here.
Keywords: schwannomatosis; two families; coexistence schwannomatosis; age ... See more keywords
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.52
Abstract: For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID.… read more here.
Keywords: epilepsy; two families; myoclonic epilepsy; cplx1 two ... See more keywords
Two Families of LCD BCH Codes
Sign Up to like & getrecommendations! Published in 2017 at "IEEE Transactions on Information Theory"
DOI: 10.1109/tit.2017.2723363
Abstract: Historically, LCD cyclic codes were referred to as reversible cyclic codes, which had applications in data storage. Due to a newly discovered application in cryptography, there has been renewed interest in LCD codes. In this… read more here.
Keywords: two families; cyclic codes; bch codes; families lcd ... See more keywords
Approximate Lamb waves in a composite plate reinforced by two families of fibres
Sign Up to like & getrecommendations! Published in 2022 at "Mathematics and Mechanics of Solids"
DOI: 10.1177/10812865221104426
Abstract: Here, we examine Lamb waves, propagating parallel to plate surfaces, reinforced by two families of strong straight fibres. Since fibres are much stronger than the matrix, anisotropic properties are highly emphasized. Coordinate-free constitutive relations give… read more here.
Keywords: two families; reinforced two; plate reinforced; lamb waves ... See more keywords
Clinical Characteristics and Gene Mutations of Two Families with MODY 3 in Inner Mongolia
Sign Up to like & getrecommendations! Published in 2022 at "Pharmacogenomics and Personalized Medicine"
DOI: 10.2147/pgpm.s371141
Abstract: Objective This study aimed to analyze the clinical characteristics and gene mutations of two families with maturity-onset diabetes of the young 3 (MODY 3) in Inner Mongolia. Methods Fifty-three patients in Inner Mongolia suspected of… read more here.
Keywords: two families; characteristics gene; gene mutations; inner mongolia ... See more keywords