scholarly journals Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

2020 ◽  
Author(s):  
Mario Mastrangelo ◽  
Barbara Torres ◽  
Gloria De Vita ◽  
Marina Goldoni ◽  
Agnese De Giorgi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Phenotype ◽  
Muscle Tone ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Pathogenic Role ◽  
Gene Dosage Effect ◽  
Severe Intellectual Disability ◽  
Neurodevelopmental Impairment ◽  
Neurodevelopmental Abnormalities

AbstractReported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for DOCK1 and/or haploinsufficiency of PRKAR1B SUN1, ADAP1, and GPER1.

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

Apparent Lack of Gene Dosage Effect in the PLT Assay

1977 ◽  
Vol 6 (5) ◽  
pp. 529-532 ◽  
Author(s):  
S. JARAMILLO ◽  
G. ANHORN ◽  
F. SCHUNTER ◽  
P. WERNET
Keyword(s):  
Gene Dosage ◽  
Dosage Effect ◽  
Gene Dosage Effect ◽  
Apparent Lack

Gene dosage effect in expression of blood group antigens

1973 ◽  
Vol 83 (2) ◽  
pp. 167-172
Author(s):  
Li-Tsun Chen ◽  
Joseph A. Davidenas ◽  
Roal F. Ruth
Keyword(s):  
Blood Group ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Blood Group Antigens ◽  
Gene Dosage Effect

scholarly journals THE GENETIC BASIS OF DOSAGE COMPENSATION OF ALCOHOL DEHYDROGENASE-1 IN MAIZE

Genetics ◽  
1981 ◽  
Vol 97 (3-4) ◽  
pp. 625-637 ◽  
Author(s):  
James A Birchler
Keyword(s):  
Alcohol Dehydrogenase ◽  
Structural Gene ◽  
Dosage Compensation ◽  
Genetic Basis ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Gene Dosage Effect ◽  
Negative Effect ◽  
Higher Eukaryotes ◽  
Alcohol Dehydrogenase 1

ABSTRACT The levels of alcohol dehydrogenase (ADH) do not exhibit a structural gene-dosage effect in a one to four dosage series of the long arm of chromosome one (1L) (BIRCHLER19 79). This phenomenon, termed dosage compensation, has been studied in more detail. Experiments are described in which individuals aneuploid for shorter segments were examined for the level of ADH in order to characterize the genetic nature of the compensation. The relative ADH expression in segmental trisomics and tetrasomics of region IL 0.72–0.90, which includes the Adh locus, approaches the level expected from a strict gene dosage effect. Region IL 0.20–0.72 produces a negative effect upon ADH in a similar manner to that observed with other enzyme levels when IL as a whole is varied (BIRCHLEF1I9 79). These and other comparisons have led to the concept that the compensation of ADH results from the cancellation of the structural gene effect by the negative aneuploid effect. The example of ADH is discussed as a model for certain other cases of dosage compensation in higher eukaryotes.

Further evidence for the assignment of the red cell acid phosphatase gene (ACP1) to the short arm of chromosome 2 from gene dosage effect

1976 ◽  
Vol 16 (1-5) ◽  
pp. 326-327
Author(s):  
R.E. Magenis ◽  
R.D. Koler ◽  
E. Lovrien ◽  
R.H. Bigley ◽  
M.C. DuVal ◽  
...  
Keyword(s):  
Acid Phosphatase ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Red Cell ◽  
Chromosome 2 ◽  
Gene Dosage Effect ◽  
I Gene

D-Alanine-D-Alanine Ligase Gene (ddl) of Erwinia chrysanthemi Strain EC16 I. Isolation and Gene Dosage Effect on Pectate Lyase Synthesis

2002 ◽  
Vol 68 (4) ◽  
pp. 342-349
Author(s):  
Pongphen JITAREERAT ◽  
Hiroyuki MATSUMOTO ◽  
Masahiro UMEHARA ◽  
Shinji TSUYUMU
Keyword(s):  
Gene Dosage ◽  
Pectate Lyase ◽  
Dosage Effect ◽  
Erwinia Chrysanthemi ◽  
Gene Dosage Effect

Nosocomial superinfections due to linezolid-resistant Enterococcus faecalis: evidence for a gene dosage effect on linezolid MICs

2003 ◽  
Vol 47 (3) ◽  
pp. 511-513 ◽  
Author(s):  
Kathleen A. Ruggero ◽  
Laura K. Schroeder ◽  
Paul C. Schreckenberger ◽  
Alexander S. Mankin ◽  
John P. Quinn
Keyword(s):  
Enterococcus Faecalis ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Gene Dosage Effect
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