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16p12.1

A chromosome band present on 16p
National Institutes of Health

Related topics

Related topics

3 relations
Chromosome 16 Short ArmChromosomesPLK1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel…
Highly Cited
2010
Highly Cited
2010
A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
There is a complex relationship between the evolution of segmental duplications and rearrangements associated with human disease… 
Highly Cited
2010
Highly Cited
2010
Understanding variable expressivity in microdeletion syndromes
A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who… 
2006
2006
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties.
Review
2005
Review
2005
The genetic epidemiology of human primary osteoarthritis: current status
Osteoarthritis (OA) is a common disease characterised by the degeneration of the cartilage of synovial joints such as the hip and… 
Highly Cited
2004
Highly Cited
2004
CORRECTION
Primary ciliary dyskinesia (PCD; Immotile cilia syndrome; OMIM 242650) is an autosomal recessive disorder resulting from… 
2004
2004
CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes).
2003
2003
Genotype-phenotype correlations for cataracts in neurofibromatosis 2
Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is caused by inactivating mutations of the NF2 tumour suppressor… 
Highly Cited
1995
Highly Cited
1995
Isolation of a novel gene underlying batten disease, CLN3
1994
1994
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1
The neuronal ceroid lipofuscinoses (NCL; Batten disease) are a collection of autosomal recessive disorders characterized by the… 
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