GJB2 wt Allele

Known as: Gap Junction Protein Beta 2 wt Allele, Gap Junction Protein, 26kD Gene, DFNA3A 
Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein… (More)

Topic mentions per year

Topic mentions per year

1972-2017
020406019722017

Papers overview

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Highly Cited
2002
Highly Cited
2002
Inhibitor of apoptosis (IAP) proteins inhibit caspases, a function counteracted by IAP antagonists, insect Grim, HID, and Reaper… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50 percent of all patients with autosomal… (More)
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Highly Cited
2000
Highly Cited
2000
We have isolated the recently identified Drosophila caspase DRONC through its interaction with the effector caspase drICE… (More)
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Highly Cited
2000
Highly Cited
2000
Induction of apoptosis in Drosophila requires the activity of three closely linked genes, reaper, hid and grim. Here we show that… (More)
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Highly Cited
1999
Highly Cited
1999
Drosophila Reaper (RPR), Head Involution Defective (HID), and GRIM induce caspase-dependent cell death and physically interact… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory… (More)
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Highly Cited
1997
Highly Cited
1997
Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most… (More)
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Highly Cited
1997
Highly Cited
1997
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies… (More)
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Highly Cited
1997
Highly Cited
1997
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of… (More)
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