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Did you mean prl and congenital abnormalities (144 results)?
[Phosphofructokinase (PFK)].
Nakajima H. Nakajima H. Nihon Rinsho. 1995 May;53(5):1241-6. Nihon Rinsho. 1995. PMID: 7602786 Review. Japanese.
Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody.
Vora S, Francke U. Vora S, et al. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3738-42. doi: 10.1073/pnas.78.6.3738. Proc Natl Acad Sci U S A. 1981. PMID: 6455664 Free PMC article.
Twelve out of 17 hybrids expressed human L subunits and retained chromosome 21, as determined by chromosome and isozyme marker analysis, whereas 5 did not express human PFKL and lacked chromosome 21. The mean erythrocyte PFK of seven individuals with trisomy 21 was found t …
Twelve out of 17 hybrids expressed human L subunits and retained chromosome 21, as determined by chromosome and isozyme marker analysis, whe …
Overexpression of liver-type phosphofructokinase (PFKL) in transgenic-PFKL mice: implication for gene dosage in trisomy 21.
Elson A, Levanon D, Weiss Y, Groner Y. Elson A, et al. Biochem J. 1994 Apr 15;299 ( Pt 2)(Pt 2):409-15. doi: 10.1042/bj2990409. Biochem J. 1994. PMID: 8172601 Free PMC article.
We describe the construction of transgenic mice overexpressing PFKL for use as a well-defined model system, in which the effects of PFKL overexpression in various tissues, and throughout development, can be studied. Mice transgenic for a murine PFKL 'gene cDN …
We describe the construction of transgenic mice overexpressing PFKL for use as a well-defined model system, in which the effects of …
Gene dosage effects of PFKL in transfected PC12 cells.
Elson A, Weiss Y, Bernstein Y, Degani H, Levanon D, Ben Hur H, Groner Y. Elson A, et al. Prog Clin Biol Res. 1993;384:135-56. Prog Clin Biol Res. 1993. PMID: 8115399 Review. No abstract available.
Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs.
Zhou F, Wang S, Qin H, Zeng H, Ye J, Yang J, Cai G, Wu Z, Zhang Z. Zhou F, et al. BMC Genomics. 2023 Nov 21;24(1):701. doi: 10.1186/s12864-023-09803-6. BMC Genomics. 2023. PMID: 37990155 Free PMC article.
BACKGROUND: Aplasia cutis congenita (ACC) is a rare genetic disorder characterized by the localized or widespread absence of skin in humans and animals. Individuals with ACC may experience developmental abnormalities in the skeletal and muscular systems, as well as potenti …
BACKGROUND: Aplasia cutis congenita (ACC) is a rare genetic disorder characterized by the localized or widespread absence of skin in humans …
Testicular lactate content is compromised in men with Klinefelter Syndrome.
Alves MG, Martins AD, Jarak I, Barros A, Silva J, Sousa M, Oliveira PF. Alves MG, et al. Mol Reprod Dev. 2016 Mar;83(3):208-16. doi: 10.1002/mrd.22608. Epub 2016 Jan 6. Mol Reprod Dev. 2016. PMID: 26676340
Our data revealed altered regulation of glucose transporters (GLUT1 and GLUT3); phosphofructokinase 1, liver isoform (PFKL); and lactate dehydrogenase A (LDHA) expression in the testis of KS patients. ...
Our data revealed altered regulation of glucose transporters (GLUT1 and GLUT3); phosphofructokinase 1, liver isoform (PFKL); and lact …
Down syndrome congenital heart disease: a narrowed region and a candidate gene.
Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR. Barlow GM, et al. Genet Med. 2001 Mar-Apr;3(2):91-101. doi: 10.1097/00125817-200103000-00002. Genet Med. 2001. PMID: 11280955 Free article.
PURPOSE: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular septal defects (AVSDs). ...RESULTS: Combining the results from these eight individuals suggests the candidate region for DS-CHD is demarcate …
PURPOSE: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular …
Meta-analysis of gene expression patterns in Down syndrome highlights significant alterations in mitochondrial and bioenergetic pathways.
Pecze L, Szabo C. Pecze L, et al. Mitochondrion. 2021 Mar;57:163-172. doi: 10.1016/j.mito.2020.12.017. Epub 2021 Jan 4. Mitochondrion. 2021. PMID: 33412332 Free article.
Several of the upregulated genes in DS encode for important components of various bioenergetic pathways, for instance PFKL and ACLY. Genes involved in oxidative phosphorylation are mostly downregulated in DS. ...
Several of the upregulated genes in DS encode for important components of various bioenergetic pathways, for instance PFKL and ACLY. …
Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase.
Elson A, Bernstein Y, Degani H, Levanon D, Ben-Hur H, Groner Y. Elson A, et al. Somat Cell Mol Genet. 1992 Mar;18(2):143-61. doi: 10.1007/BF01233161. Somat Cell Mol Genet. 1992. PMID: 1533471
These facts, together with abnormalities which occur in DS glycolysis, make PFKL overexpression a candidate for causing some aspects of the DS phenotype. A cellular model for examining the consequences of PFKL overexpression in DS was constructed by transfect …
These facts, together with abnormalities which occur in DS glycolysis, make PFKL overexpression a candidate for causing some a …
The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK.
Levanon D, Danciger E, Dafni N, Bernstein Y, Elson A, Moens W, Brandeis M, Groner Y. Levanon D, et al. DNA. 1989 Dec;8(10):733-43. doi: 10.1089/dna.1989.8.733. DNA. 1989. PMID: 2533063
Extensive similarity (approximately 90%) in the coding region was observed between the hPFKL and the mouse PFKL, whereas the degree of similarity between different types of PFK, i.e., hPFKL and human muscle-type PFK (hPFKM), was merely 68%. ...Human PFK L- and M-specific p …
Extensive similarity (approximately 90%) in the coding region was observed between the hPFKL and the mouse PFKL, whereas the degree o …
18 results