Term
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Definition
| Major transcription factor in determining myoblast lineage |
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Term
| During development of the blood cell lineages from the HSC (Hematopoietic Stem Cell),the MYELOID lineage is initially activated and supported by: |
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Definition
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Term
| During endochondral ossification, the transcription factor SOX 9 is expressed in what zones |
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Definition
| proliferation, maturation |
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Term
| During endochondral ossification, the extracellular matrix protein COLLAGEN X is expressed in what zone |
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Definition
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Term
| The COLLECTING DUCTS of the METANEPHRIC KIDNEY are derived from the: |
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Definition
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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: |
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Definition
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Term
The first molecule expressed in the developmental interaction between the
metanephrogenic mesenchyme and the ureteric bud is: |
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Definition
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Term
| TESTIS DETERMINING FACTOR (SRY) is secreted by the: |
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Definition
| bipotential (indifferent) gonad |
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Term
| In females, the homologous structure(s) to the GUBERNACULUM TESTIS is (are) the: |
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Definition
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Term
| GONADAL AGENESIS, the complete absence of the gonads, is due to the absence of: |
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Definition
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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: |
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Definition
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Term
| The forelimb development in humans: |
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Definition
| Occurs opposite somites C4-C2 at week 4, precedes hindlimb devpt by 12-24 hrs. |
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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 |
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Definition
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Term
| To “become” a humerus, cells must: |
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Definition
| leave progress zone early, express Hox A9, D9 |
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Term
| Conditions with autosomal recessive inheritance generally affect individuals in a family |
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Definition
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Term
Cystic Fibrosis is caused by a mutation in the CFTR gene. The function of the
protein from this gene is to |
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Definition
| regulate transport of chloride across the cell membrane |
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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? |
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Definition
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Term
| Sickle Cell Anemia is due to |
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Definition
| single mutn in beta globin gene |
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Term
Which of the following methods of prenatal diagnosis would have the highest risk of
complications or miscarriage? |
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Definition
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Term
Which of the following newborn screening tests, if detected and treated appropriately,
would result in the best outcome for the patient? |
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Definition
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Term
An important factor in the establishment of left-right asymmetry in the early
post-implantation embryo is: |
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Definition
| expression of the ACTIVIN IIA receptor, the binding of ACTIVIN to this receptor |
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Term
An important factor in the occurrence of ocular defects in the RENAL
COLOBOMA syndrome is the abnormal expression of
in the CHOROID FISSURE : |
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Definition
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Term
In the "HAND-FOOT-GENITAL" syndrome (HOX A13), the major genital
defect observed in affected females is: |
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Definition
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Term
| Atrioseptal defects are the consequence of mutations in: |
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Definition
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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? |
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Definition
| inhbtn of growth in progress zone, inhbtn of vessel growth into forelimb |
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Term
| In the NAIL-PATELLA SYNDROME phenotype, |
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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 |
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Term
| In PELVIURETERIC JUNCTION OBSTRUCTION: |
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Definition
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Term
| In COLLAGEN TYPE II embryopathies: |
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Definition
A. there is an autosomal dominant mutation
B. there is a defect in endochondral ossification
C. there is no defect in intramembraneous ossification |
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Term
| In CRANIOSYNOSTOSIS TYPE 2 embryopathy: |
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Definition
| overexpression of MSX2 transcription factor |
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Term
| In SYNDACTYLY TYPE II defects: |
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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 |
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Term
Current thinking on the causative factor in SPLIT-HAND DEFORMITY is
that it is the result of mutation in which tumor-suppressor gene: |
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Definition
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Term
| In the CAMPOMELIC DYSPLASIA syndrome, |
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Definition
| abnormal curvature in long bones, affected gene product is Sox 9, NO intramembranous ossification defects |
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Term
| The sclerotome arises from cells that were located in the: |
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Definition
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Term
| Mutation of one allele for PAX 3 in humans results in: |
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Definition
| deafness, abnormal pigmentation |
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Term
SHH (sonic hedgehog) is a master regulatory protein which acts through the
PATCHED cell-surface receptor to activate a SPECIFIC TRANSCRIPTION
FACTOR called: |
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Definition
|
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Term
| The FGFR3 (fibroblast growth factor receptor 3) gene, (4p16), is associated with: |
|
Definition
| thanatophoric dysplasia-I-curved short femur, II-long femur |
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Term
The WNT signaling pathway activates a specific transcription factor involved in the
development of the: |
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Definition
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Term
Thalidomide, a tranquilizer and a very potent human teratogen, is returning to
clinical medicine as a drug which also: |
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Definition
| inhibits angiogenesis, “slows down” diabetic retinopathy (an angiogenesis - associated disease) |
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