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Details Title: Old Test Questions Description: Random Assorted Total Flash Cards: 38 Created: 12/02/2003 14:14:23	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
Cards Term PAX3 Definition Major transcription factor in determining myoblast lineage Term During development of the blood cell lineages from the HSC (Hematopoietic Stem Cell),the MYELOID lineage is initially activated and supported by: Definition SCF-Stem Cell Factor Term During endochondral ossification, the transcription factor SOX 9 is expressed in what zones Definition proliferation, maturation Term During endochondral ossification, the extracellular matrix protein COLLAGEN X is expressed in what zone Definition hypertrophy Term The COLLECTING DUCTS of the METANEPHRIC KIDNEY are derived from the: Definition ureteric buds Term During kidney development MESENCHYMAL-EPITHELIAL transformation in the metanephric mesenchyme leads to the formation of SECRETORY TUBULES, which eventually fuse with the branches of the ureteric bud. This process is controlled by: Definition PAX2, WNT4 Term The first molecule expressed in the developmental interaction between the metanephrogenic mesenchyme and the ureteric bud is: Definition WT1 Term TESTIS DETERMINING FACTOR (SRY) is secreted by the: Definition bipotential (indifferent) gonad Term In females, the homologous structure(s) to the GUBERNACULUM TESTIS is (are) the: Definition round ligament Term GONADAL AGENESIS, the complete absence of the gonads, is due to the absence of: Definition WT1 Term A major defect associated with RENAL COLOBOMA SYNDROME is a choroidal fissure (optic cup derivative) which shows itself as an incomplete IRIS in the eye. The mutated gene product associated with the anomaly is: Definition PAX2 Term The forelimb development in humans: Definition Occurs opposite somites C4-C2 at week 4, precedes hindlimb devpt by 12-24 hrs. Term is derived from myotomal tissue, that arises from the dorsolateral portion of the somite B. reaches the limb by migrating along fibronectin (FN) pathways Definition limb muscle Term To “become” a humerus, cells must: Definition leave progress zone early, express Hox A9, D9 Term Conditions with autosomal recessive inheritance generally affect individuals in a family Definition in a single generation Term Cystic Fibrosis is caused by a mutation in the CFTR gene. The function of the protein from this gene is to Definition regulate transport of chloride across the cell membrane Term Phenylketonuria (PKU) is tested for in newborn screening. If this condition is missed due to lab error in a newborn child, what finding in the next several months will likely be identified? Definition seizures Term Sickle Cell Anemia is due to Definition single mutn in beta globin gene Term Which of the following methods of prenatal diagnosis would have the highest risk of complications or miscarriage? Definition CVS Term Which of the following newborn screening tests, if detected and treated appropriately, would result in the best outcome for the patient? Definition hypothyroidism Term An important factor in the establishment of left-right asymmetry in the early post-implantation embryo is: Definition expression of the ACTIVIN IIA receptor, the binding of ACTIVIN to this receptor Term An important factor in the occurrence of ocular defects in the RENAL COLOBOMA syndrome is the abnormal expression of in the CHOROID FISSURE : Definition PAX2 Term In the "HAND-FOOT-GENITAL" syndrome (HOX A13), the major genital defect observed in affected females is: Definition bicornate uterus Term Atrioseptal defects are the consequence of mutations in: Definition Both NKX2-5, TBX5 Term Thalidomide embryopathy in humans, which results in PHOCOMELIA (absence of proximal elements of the forelimb) is thought to impact on which of the following? Definition inhbtn of growth in progress zone, inhbtn of vessel growth into forelimb Term In the NAIL-PATELLA SYNDROME phenotype, Definition A. females are more affected than males B. the affected gene is the LIM homeobox transcription factor 1 C. there are a wide range of elbow deformities Term In PELVIURETERIC JUNCTION OBSTRUCTION: Definition defect is hydronephrosis Term In COLLAGEN TYPE II embryopathies: Definition A. there is an autosomal dominant mutation B. there is a defect in endochondral ossification C. there is no defect in intramembraneous ossification Term In CRANIOSYNOSTOSIS TYPE 2 embryopathy: Definition overexpression of MSX2 transcription factor Term In SYNDACTYLY TYPE II defects: Definition A. both extremities can demonstrate webbing of the digits B. there is a mutation in HOXD 13 C. there is evidence of male to male transmission Term Current thinking on the causative factor in SPLIT-HAND DEFORMITY is that it is the result of mutation in which tumor-suppressor gene: Definition P63 Term In the CAMPOMELIC DYSPLASIA syndrome, Definition abnormal curvature in long bones, affected gene product is Sox 9, NO intramembranous ossification defects Term The sclerotome arises from cells that were located in the: Definition paraxial mesoderm Term Mutation of one allele for PAX 3 in humans results in: Definition deafness, abnormal pigmentation Term SHH (sonic hedgehog) is a master regulatory protein which acts through the PATCHED cell-surface receptor to activate a SPECIFIC TRANSCRIPTION FACTOR called: Definition CI (cubitis interruptus) Term The FGFR3 (fibroblast growth factor receptor 3) gene, (4p16), is associated with: Definition thanatophoric dysplasia-I-curved short femur, II-long femur Term The WNT signaling pathway activates a specific transcription factor involved in the development of the: Definition limb bud, kidney Term Thalidomide, a tranquilizer and a very potent human teratogen, is returning to clinical medicine as a drug which also: Definition inhibits angiogenesis, “slows down” diabetic retinopathy (an angiogenesis - associated disease)