Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1829
Abstract: BACKGROUND This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. METHODS… read more here.
Keywords: critical region; region trigonocephaly; deletion; region ... See more keywords
3q29 microduplication syndrome: New evidence for the refinement of the critical region
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2130
Abstract: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two… read more here.
Keywords: syndrome new; microduplication syndrome; microduplication; critical region ... See more keywords
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.797
Abstract: Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS is the study of the extremely rare cases… read more here.
Keywords: dscr; critical region; region dscr; highly restricted ... See more keywords
Transverse free vibration and stability of axially moving nanoplates based on nonlocal elasticity theory
Sign Up to like & getrecommendations! Published in 2017 at "Applied Mathematical Modelling"
DOI: 10.1016/j.apm.2016.12.006
Abstract: Abstract Transverse dynamical behaviors of axially moving nanoplates which could be used to model the graphene nanosheets or other plate-like nanostructures with axial motion are examined based on the nonlocal elasticity theory. The Hamilton's principle… read more here.
Keywords: critical region; moving nanoplates; based nonlocal; axially moving ... See more keywords
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.10.061
Abstract: SUMMARY Down syndrome (DS, trisomy 21) is associated with developmental abnormalities and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes, we performed paired exogenous spike-in normalized RNA and chromatin immunoprecipitation sequencing in DS… read more here.
Keywords: syndrome critical; overexpression; trisomy syndrome; hmgn1 ... See more keywords
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1655755
Abstract: Wolf-Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In… read more here.
Keywords: congenital diaphragmatic; diaphragmatic hernia; machine learning; critical region ... See more keywords
Magnon-induced nuclear relaxation in the quantum critical region of a Heisenberg linear chain
Sign Up to like & getrecommendations! Published in 2017 at "Physical Review B"
DOI: 10.1103/physrevb.96.024444
Abstract: The low-temperature properties of spin-1/2 one-dimensional (1D) Heisenberg antiferromagnetic (HAF) chains which have relatively small exchange couplings between the spins can be tuned using laboratory-scale magnetic fields. Magnetization measurements, made as a function of temperature,… read more here.
Keywords: relaxation; critical region; heisenberg; quantum critical ... See more keywords
Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cosmetic Dermatology"
DOI: 10.1111/jocd.12336
Abstract: Psoriasis is a complex autoimmune inflammatory disease that occurs in genetically susceptible individuals and presents with the development of inflammatory plaques on the skin. Recent studies have indicated that microRNAs (miRNAs) play important roles in… read more here.
Keywords: syndrome critical; drosha digeorge; critical region; psoriasis ... See more keywords
Calculation of thermodynamic properties of SF6 including the critical region. Thermal functions and speed of sound
Sign Up to like & getrecommendations! Published in 2017 at "High Temperature"
DOI: 10.1134/s0018151x17050042
Abstract: Specific heats Cv and Cp, entropy S, enthalpy H, and speed of sound W have been calculated using a new thermal equation of state with a small number of variable constants, which includes regular and… read more here.
Keywords: speed sound; state; critical region; properties sf6 ... See more keywords
Down Syndrome Critical Region 1 Gene, Rcan1, Helps Maintain a More Fused Mitochondrial Network
Sign Up to like & getrecommendations! Published in 2018 at "Circulation Research"
DOI: 10.1161/circresaha.117.311522
Abstract: Rationale: The regulator of calcineurin 1 (RCAN1) inhibits CN (calcineurin), a Ca2+-activated protein phosphatase important in cardiac remodeling. In humans, RCAN1 is located on chromosome 21 in proximity to the Down syndrome critical region. The… read more here.
Keywords: rcan1; syndrome critical; mitochondrial network; critical region ... See more keywords