Gain of Function Flashcards

1
Q

Hemoglobin Kempsey

A

Asp99Asn missense mutation

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

Asp99Asn missense mutation

A

Hemoglobin Kempsey

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

Hemoglobin Kempsey - Symptoms

A

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

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

hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia

A

Hemoglobin Kempsey - Symptoms

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

Achodroplasia

A

FGFR3 (fibroblast growth factor receptor 3)

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

FGFR3 (fibroblast growth factor receptor 3)

A

Achodroplasia

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

Achodroplasia - symptoms

A

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

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

Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing

A

Achodroplasia - symptoms

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

Charcot-Marie-Tooth disease

A

duplication of PMP22 gene, leading to elevated PMP22 protein

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

duplication of PMP22 gene

A

Charcot-Marie-Tooth disease

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

Charcot-Marie-Tooth disease - Symptoms

A

lower extremities with weakness and muscle atrophy and mild sensory loss

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

lower extremities with weakness and muscle atrophy and mild sensory loss

A

Charcot-Marie-Tooth disease - Symptoms

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

Alzheimer’s in Trisomy 21

A

3 total copies of the APP (21q21) leading to increased production of APP protein

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