Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Noorda FOM > Module 3-4 Review > Flashcards

Module 3-4 Review Flashcards

1
Q

I-cell disease biomarker (Dr. R)

A

Elevated lysosomal enzymes in plasma (inclusion bodies)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

I-cell disease symptoms (Dr. R)

A

Coarse facial features
Developmental delay
Skeletal abnormalities
Restricted joint movement
Enlarged liver and spleen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Gaucher disease affected enzyme (Dr. R)

A

Glucocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Gaucher disease biomarker (Dr. R)

A

Elevated chitotriosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Gaucher disease symptoms (Dr. R)

A

Enlarged liver and spleen
Bone pain
Fatigue
Bruising and bleeding
Lung disease
Growth retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Fabry disease affected enzyme (Dr. R)

A

Alpha-galactosidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Fabry disease biomarker (Dr. R)

A

Elevated globotriaosylceramide (ceramide trihexoside)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Tay-Sachs disease affected enzyme (Dr. R)

A

Hexosaminidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Tay-Sachs disease biomarker (Dr. R)

A

Elevated GM2 ganglioside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Krabbe disease affected enzyme (Dr. R)

A

Galactocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Krabbe disease symptoms (Dr. R)

A

Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delay
Optic atrophy
Globoid cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Niemann-Pick disease biomarker (Dr. R)

A

Elevated sphingomyelin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Niemann-Pick disease symptoms (Dr. R)

A

Enlarged liver and spleen
Neurological decline
Ataxia
Interstitial lung disease
Feeding difficulties
Failure to thrive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MLD affected enzyme (Dr. R)

A

Arylsulfatase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

MLD biomarker (Dr. R)

A

Elevated sulfatides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

MLD symptoms (Dr. R)

A

Progressive neurological decline
Motor function loss
Behavioral changes
Seizures
Peripheral neuropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Hurler syndrome biomarker (Dr. R)

A

Elevated dermatan sulfate and heparan sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Hurler syndrome symptoms (Dr. R)

A

Developmental delay
Skeletal abnormalities
Airway obstruction
Corneal clouding
Hepatosplenomegaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Sphingolipidosis diseases

A

Tay-Sachs (GM2 Type A)*
Sandhoff (GM2 Type O) Activator deficiency (GM2 Type AB)
Niemann-Pick (A, B, C)*
Gaucher (1, 2, 3)*
Fabry (Classic, Adult)*
Metachromatic leukodystrophy (MLD)*
Krabbe (Globoid leukodystrophy)*
GM1 gangliosidosis (1, 2, 3)
Multiple sulfatase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Mucopolysaccharidosis syndromes

A

Hurler*
Scheie
Hurler-Scheie
Hunter*
San Filippo (A, B, C, D)
Morquio (A, B)
Maroteaux-Lamy
Sly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Mucolipidosis diseases

A

Sialidosis I and II (mucolipidois I)
I-cell (mucolipidois II)*
Psuedo-Hurler-Polydystrophy (mucolipidois III)
Mucolipidois IV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What happens when eIF-2 is phosphorylated

A

Inactivated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What amino acids have hydroxylation occur

A

Proline
Lysine
(Vitamin C dependent hydroxylases)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Collagen IV dysfunction diseases

A

Alport syndrome
Goodpasture syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What causes Alport syndrome

A

Mutations in C-terminal globular domain of certain collagen IV chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Symptoms of Alport syndrome

A

Progressive renal failure
Sensorineural hearing loss
Ocular abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Examples of adhesive ECM proteins

A

Integrins
Cadherins
Actin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Key structure of collagen

A

Glycine-proline-hydroxyproline with hydroxylysine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What 2 cofactors are required for collagen synthesis

A

Vitamin C
Iron (Fe2+)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What regulates MMP’s and ADAMT’s

A

Tissue Inhibitors of Matrix Metalloproteinases (TIMP’s)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What causes osteogenesis imperfecta (brittle bone or Lobstein syndrome)

A

Mutation in COL1A1 and COL1A2 causing collagen type I deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Symptoms of Lobstein syndrome

A

Excessive bone fractures
Bone deformities
Short height
Basilar invagination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is Ehlers-Danlos syndrome

A

Structural weakness in connective tissue due to defective collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Symptoms of scurvy

A

Perifollicular hyperkeratosis
Perifollicular hemorrhage
Coiled fragile corkscrew hair
Palpable purpura
Gingivitis
Swollen and painful joints

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Function of gap junctions

A

Intercellular communication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Main cell to cell adhesion molecule

A

E-cadherin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What molecule suppression leads to metastasis of many cancers

A

E-cadherin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What cadherins are in desomosomes

A

Desmoglein 1
Desmoglein 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What are gap junctions

A

2 connexon hemi-channels composed of 6 connexin monomers each

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What proteins are associated with tight junctions

A

Claudins
Occludins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What proteins are associated with hemidesmisomes

A

Integrins
Keratin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Function of tight junctions

A

Prevent pericellular transport

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Function of adhering junctions

A

Connects cells to each other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Function of desmosomes

A

Linking transcellular intermediate filaments

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Function of hemidesmosomes

A

Anchor cells to basal lamina
Maintain integrity of basal lamina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Function of collagen type I

A

Bone
Skin
Tendons
Ligaments
Fascia
Dentin
Cornea
Organs
Scar tissue (late)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Function of collagen type II

A

Cartilage
Vitreous humor
Intervertebral discs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Function of collagen type III (reticulin)

A

Reticular fibers of the skin
Blood vessels
Scar tissue (early)
Fetal through embryogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Function of collagen type IV

A

Basement membrane
Lens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Disease associated with collagen type I

A

Osteogenesis imperfecta
Ehlers-Danlos Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Disease associated with collagen type III

A

Ehlers-Danlos Type IV

52
Q

Disease associated with collagen type IV

A

Alport
Goodpasture

53
Q

Function of vinca alkaloids

A

Inhibit microtubule polymerization

54
Q

Function of taxanes/taxels

A

Inhibit microtubule disassembly/Stabilize GDP-bound tubulin

55
Q

Function of colchicine

A

Inhibit microtubule polymerization (Gout)

56
Q

What stimuli are needed to make adult stem cells like embryonic

A

KLF
MYC
OCT3/4
SOX2
Nanog

57
Q

“GO” factors for the cell cylce

A

Cyclins
Cyclin dependent kinases
Polo like kinases

58
Q

“STOP” factors for cell cycle

A

TSG’s
RB
p53
CDK inhibitors

59
Q

Cyclin - CDK - G1 active phase

A

Cyclin D (D1, D2, D3) - CDK4/CDK6

60
Q

Cyclin - CDK - G1/S active phase

A

Cyclin E - CDK2

61
Q

Cyclin - CDK - S active phase

A

Cyclin A - CDK2/CDK1

62
Q

Cyclin - CDK - G2, M active phase

A

Cyclin B/A - CDK1

63
Q

What virus causes Burkitt’s or Hodgkin’s lymphomas

A

Epstein-Barr (EBV)

64
Q

What virus causes cervical cancer

A

Human Papilloma 16 (HPV)

65
Q

What virus causes Kaposi sarcoma, non-Hodgkin’s and Hodgkin’s lymphomas, and cervical cancers

A

Human Immunodeficiency (HIV)

66
Q

Angiogenesis activators

A

Angiotropin*
Ephrin*
Fibroblast Growth Factor*
MMP’s*
PDGF*
VEGF*
HIF-1
Erythropoietin

67
Q

Angiogenesis inhibitors

A

Thrombospondins
Platelet factor 4
Endostatin
Angiostatin
TIMPs
Angiopoietin-2

68
Q

What are the major characteristics of LAD

A

Disrupted microtubule assembly and aggregated microtubule proteins
Increased levels of fetal hemoglobin and reduced levels of adult hemoglobin Rare and is Bombay (hh) blood type and lack of Lewis blood group antigen

69
Q

What is the deficiency in LAD Type I

A

beta2 integrin on leukocytes

70
Q

What is the deficiency in LAD Type II

A

Selectins or fucosylation of selectins

71
Q

Function of Arp2/3 complex (platelet abnormalities, cutaneous vasculitis, eosinophilia)

A

Initiate branches of actin

73
Q

Major symptoms of Kartagener syndrome

A

Chronic sinusitis, lower respiratory tract infections, dextrocardia

73
Q

Function of dystropin (muscular dystrophy)

A

Mediates actin binding with transmembrane protein in muscles

73
Q

Function of spectrin (hereditary spherocystosis)

A

Cytoskeletal organization in erythrocytes (spherical RBC)

73
Q

Causes of Kartagener syndrome

A

Impaired ciliary movement, mostly due to mutations in genes encoding dynein arms

74
Q

Vitamin C deficiency adversely affects

A

Connective tissue
Bones
Dentin

75
Q

Effects of Kartagener syndrome

A

Immotile sperm, Infertility, Severe bronchiectasis and sinusitis, Recurrent pulmonary infections

75
Q

Diseases associated with gap junctions

A

Atrial fibrillation
Charcot-Marie –Tooth syndrome (connexin 32 mutation)

76
Q

Disease associated with tight junctions

77
Q

Diseases associated with hemidesmosomes

A

Bullous pemphigoid (antibodies specifically target proteins (Integrin α6β4; BP180, BP230)
Epidermolysis bullosa

78
Q

Disease associated with desmosomes

A

Pemphigus vulgaris (antibodies target desmoglein, a desmosomal specific cadherin)

79
Q

Protein associated with desmosomes

80
Q

Protein associated with hemidesmosomes

81
Q

Anchoring proteins

A

Actin
Cadherin
Integrin

82
Q

Cell-cell juncitons

A

Gap
Tight
Desmosomes
Adheren

83
Q

Cell-matrix junctions

A

Actin linked
Hemidemsosomes

84
Q

Deficiency of spectrin causes

A

hereditary spherocytosis

85
Q

Dystrophin deficiency causes

A

Muscular dystrophy

86
Q

What is becaplermin used for

A

Recombinant PDGF, diabetic neuropathic ulcers

87
Q

What are “mab”’s

A

Monoclonal antibodies

88
Q

What are “nib”’s

A

RTK inhibitors

89
Q

What are Bevacizumab, Ranibizumab

A

VEGF-A monoclonal antibodies

90
Q

Steps of sprouting angiogenesis

A

Angiogenic factors—ECM proteases helps endothelial cell escape——EC proliferation and sprouts—migration—-tube formation

91
Q

Steps of Intussusceptive angiogenesis

A

Two vessel forms contact zone—–growth factors penetrate——-pericyte and myofibroblasts infiltration——vessel growth

92
Q

What ubiquinates and degrades cylcins/CDK’s in M phase

A

Anaphase promoting complex (APC)

93
Q

Intrinsic pathway for apoptosis

A

Stress—–Bcl-2 inactivated——-Bax and Bak activation which forms pores in mitochondrial membrane——-release of cytochrome C———-activation of apoptosome (APF1 and caspase-9)——-caspase-3 activation——apoptosis

94
Q

Extrinsic pathway for pathogens/cytokines in apoptosis

A

Death receptor (FADD) activation——Disc formation——activation of caspase 8 ——-caspase-3 activation——apoptosis

95
Q

Extrinsic pathway for pathogens/cytokines in apoptosis (mitochondria)

A

Death receptor activation——Disc formation——activation of caspase 8 ——Bid—-mitochondrial cytochrome C release—-apoptosome -caspase-3 activation——apoptosis.

96
Q

Function of capsase 1

A

Innate immunity
Inflammatory responses

97
Q

Disease associated with increased expression of capsase 3

A

Huntington’s

98
Q

Mutation in capsase 3 causes

99
Q

Anti-apoptotic proteins

A

BCL-2
BCL-xL
BCL-w

100
Q

Pro-apoptotic proteins

A

Bax
Bad
Bak
Bid
Noxa

101
Q

Examples of oncogene collaboration

A

KRAS and MYC
Beta-catenin and APC
Ras and p53

102
Q

Oncogene collaboration happens at what time

103
Q

Oncogene multi-hit happens at what time

A

Throughout life

104
Q

What virus causes only Kaposi sarcoma

A

Human herpes 8 (HHV-8)

105
Q

Tumor suppressor APC mutation symptoms

A

Adenomatous polyps

106
Q

Tumor suppressor APC mutation disease

A

Familial adenomatous polyposis

107
Q

Tumor suppressor PTEN mutation symptoms

A

Harmartomatous polyps

108
Q

Tumor suppressor APC mutation disease

A

Cowden syndrome (multiple cancers)

109
Q

Tumor suppressor p53 mutation disease

A

Li-Fraumeni syndrome
- Osteosarcoma
- Breast cancer
- Brain cancer
- Others

110
Q

Tumor suppressor RB mutation disease

A

Retinoblastoma

111
Q

Function of BCR-ABL gene

A

Non-receptor tyrosine kinase

112
Q

Function of JAK2 gene

A

Non-receptor tyrosine kinase

113
Q

Function of C-myc gene

A

Transcription factor

114
Q

Function of BCL2 gene

A

Anti-apoptosis

115
Q

Disease caused by BCR-ABL mutation

A

CML (t9:22)

116
Q

Disease caused by JAK 2 mutation

A

Chronic myeloproliferative disorders

117
Q

Disease caused by C-myc mutation

A

Burkitt lymphoma

118
Q

Disease caused by BCL 2 mutation

A

Follicular lymphoma, diffuse large B cell lymphoma

119
Q

Burkitt lymphoma is caused by what gene translocations

A

Myc 8q24 and IgH 14q32

120
Q

Chronic myeloid leukemia is caused by what gene translocations

A

Abl 9q34 and BCR 22q11

121
Q

Follicular lymphoma is caused by what gene translocations

A

IgH 14q32 and Bcl2 18q21

122
Q

Major carcinogens include

A

Alkylating agents
Aflatoxin
Asbestos
Arsenic

123
Q

Example of multi-hit hypothesis for colon cancer

A

Mutations in
- APC
- KRAS
- TP53

Noorda FOM (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions