proline and Angiomatosis Retinae

proline has been researched along with Angiomatosis Retinae in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's6 (85.71)29.6817
2010's0 (0.00)24.3611
2020's1 (14.29)2.80

Authors

AuthorsStudies
Alam, MS; Calhoun, B; Haldar, K; Liu, F; Lu, X; Sun, M; Wang, X; Zhang, C1
Kaelin, WG; Safran, M1
Catapano, D; D'Agruma, L; D'Angelo, VA; Guarnieri, V; Muscarella, LA; Zelante, L1
Crowley, A; Ludman, MD; Pettman, RK; Riddell, C1
Balogh, K; Fazakas, F; Gergics, P; Liko, I; Patocs, A; Racz, K; Toth, M1
Baker, DW; Bradley, JF; Huelsman, KM; Rothberg, PG1
Robinson, B1

Reviews

1 review(s) available for proline and Angiomatosis Retinae

ArticleYear
HIF hydroxylation and the mammalian oxygen-sensing pathway.
    The Journal of clinical investigation, 2003, Volume: 111, Issue:6

    Topics: Animals; Apoptosis Regulatory Proteins; Asparagine; Basic Helix-Loop-Helix Transcription Factors; DNA-Binding Proteins; Humans; Hydroxylation; Hypoxia-Inducible Factor 1; Hypoxia-Inducible Factor 1, alpha Subunit; Ligases; Nuclear Proteins; Oxygen; Proline; Repressor Proteins; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins; Ubiquitin-Protein Ligases; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2003

Other Studies

6 other study(ies) available for proline and Angiomatosis Retinae

ArticleYear
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.
    BMC medical genetics, 2020, 02-27, Volume: 21, Issue:1

    Topics: Adrenal Gland Neoplasms; Cerebellar Neoplasms; Child; Child, Preschool; Family; Female; Frameshift Mutation; Germ-Line Mutation; Hemangioblastoma; Humans; Male; Middle Aged; Neoplasms, Multiple Primary; Pedigree; Pheochromocytoma; Proline; Retinal Neoplasms; RNA Splicing; Silent Mutation; Spinal Neoplasms; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2020
Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.
    Neurosurgery, 2005, Volume: 56, Issue:6

    Topics: Adult; Aged; Arginine; Central Nervous System Neoplasms; DNA Mutational Analysis; Exons; Female; Hemangioblastoma; Humans; Leucine; Magnetic Resonance Imaging; Male; Middle Aged; Molecular Biology; Mutation, Missense; Proline; Retrospective Studies; Tryptophan; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2005
VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.
    Molecular diagnosis & therapy, 2006, Volume: 10, Issue:4

    Topics: Aged; Amino Acid Substitution; Humans; Lysine; Middle Aged; Mutation; Pedigree; Proline; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2006
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
    BMC medical genetics, 2008, Apr-16, Volume: 9

    Topics: Amino Acid Sequence; Female; Humans; Male; Mutation; Pedigree; Proline; Protein Structure, Secondary; Sequence Alignment; Serine; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2008
Is the P25L a "real" VHL mutation?
    Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 2001, Volume: 6, Issue:1

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Arginine; DNA Mutational Analysis; Female; Genes, Tumor Suppressor; Genetic Predisposition to Disease; Humans; Leucine; Ligases; Male; Point Mutation; Polymorphism, Genetic; Proline; Proteins; Tumor Suppressor Proteins; Ubiquitin-Protein Ligases; von Hippel-Lindau Disease; Von Hippel-Lindau Tumor Suppressor Protein

2001
Much huffing about HIF: oxygen dependent proline hydroxylation and the regulation of hypoxia inducible factors.
    Pediatric research, 2001, Volume: 50, Issue:6

    Topics: Amino Acid Sequence; Basic Helix-Loop-Helix Transcription Factors; Binding Sites; DNA-Binding Proteins; Humans; Hydroxylation; Hypoxia-Inducible Factor 1; Hypoxia-Inducible Factor 1, alpha Subunit; Molecular Sequence Data; Nuclear Proteins; Peptide Fragments; Proline; Trans-Activators; Transcription Factors; von Hippel-Lindau Disease

2001