PKD1

AcronymDefinition
PKD1Autosomal Dominant Polycystic Kidney Disease
PKD1Polycystic Kidney Disease 1 Gene
References in periodicals archive ?
La ADPKD puede ser causada por mutaciones en dos genes diferentes; la mas frecuente es la ADPKD 1 (85% de los casos) causada por mutaciones en el gen PKD1 o tambien llamado policistina 1.
Actualidad de la enfermedad renal poliquistica
Disease Cause Polycystic kidney Mutations in PKD1, PKD2 or PKHDI genes disease is marked by disrupt primary cilia signaling that the growth of tells kidney cells to halt growth.
Nouveaux antennas: a single hairlike appendage may allow a cell to sense the outside world
The less PKD1 is expressed, the more cysts develop.
Single gene that controls growth of many forms of polycystic disease found
1998)) esta tecnica ha sido fiable para la deteccion de la banda de PKD1 en todos los casos de los controles utilizados.
Deteccion de una enfermedad autosomica dominante mediante marcadores moleculares de tipo SSCP: identificacion de portadores de PKD felino
p53-independent benzene-induced decrease or increase Decrease CR6, EGFBP-1, GDIA, GDI-alpha, mGk-6, Glut-3, HDGF, PKD1, ZO-1 WT: decreased p53-KO: decreased Increase ALK-1, Angrp, cardiac troponin T, Ctsg, CYP2E1, Dmp1, Fmo3, WT: increased fra-2, GHR, Gpr50, Hox-1.
Mechanisms of benzene-induced hematotoxicity and leukemogenicity: cDNA microarray analyses using mouse bone marrow tissue
Autosomal dominant polycystic kidney disease is an inherited disease that is most often the result of a mutation in a gene known as PKD1.
Millennium receives United States patent for polycystic kidney disease diagnostic tests
By 1995, scientists had produced a map of the PKD1 gene, showing all of its molecular components.
Polycystic Kidney Disease
Genes mentioned: CFTR, FMR1, CYP11B1, Hemoglobin beta gene (HBB), HEXA, HTT, PKD1, Xp2l, FVIII, CPDX2.
Research and Markets: Opportunities in Noninvasive Prenatal Diagnostics and Newborn Screening
Genetic testing revealed that the patient is heterozygote for a large deletion in PKD1 gene, which encompasses all tested exons (exons 1-44).
Nephrectomy in patients with Caroli's and ADPKD may be associated with increased morbidity
2002), whereas a mutation in the PKD1 gene has been associated with the development of autosomal dominant polycystic kidney disease (Online Mendelian Inheritance in Man [OMIM][TM], 2000.
Genetics and kidney dysfunction
MEN-2) Hereditary hemochromatosis HFE (C282Y, H63D) Familial adenomatous APC polyposis of the colon Cystic fibrosis CFTR Canavan disease ASPA Fragile X syndrome FMR1 Alpha-1-antitrypsin PI (ATT) deficiency Neurofibromatosis NF 1, NF 2 Marfan's syndrome FBN1 Osteogenesis imperfecta COL1A1, COL1A2 types I-IV Myotonic dystrophy DM 1 Adult polycystic kidney PKD1, PKD2, PKHD1 disease DISEASE INCIDENCE/PREVALENCE Huntington's disease 1 in 1,000 (carriers); 30,000 have the disease RET oncogene (multiple Approximately 200 new cases endocrine neoplasia type-2.
From peapods to laboratory medicine: molecular diagnostics of inheritable diseases. (Clinical Issues)
Harris and the European Polycystic Kidney Disease Consortium had identified the gene, called PKD1, on the short arm of chromosome 16, 1 of the 23 pairs of human chromosomes.
Megagene unmasked: huge gene leads to many tumors in the kidneys
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