PMID- 9799091
OWN - NLM
STAT- MEDLINE
DCOM- 19981119
LR  - 20231213
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 103
IP  - 3
DP  - 1998 Sep
TI  - The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures 
      and mutational screening in frontotemporal dementia and parkinsonism linked to 
      chromosome 17.
PG  - 340-5
AB  - Full exon-intron structures are presented for the NIK serine/threonine protein 
      kinase gene and a novel gene termed C17orf1. By in situ hybridisation and 
      radiation hybrid mapping, a cosmid (cDD-Z) that contains regions of both of these 
      genes has been localised between markers D17S800 and D17S791 at chromosome 17q21. 
      The two genes are thus positional candidates for the mutant locus underlying 
      frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), a 
      disease for which NIK is also a good biological candidate. Using exon-intron 
      maps, a genomic DNA sequencing based mutation screen has been performed for the 
      NIK and C17orf1 genes in a chromosome 17-linked FTDP-17 pedigree. Two silent 
      single-base variations were detected in C17orf1. No alterations were restricted 
      to DNA samples from patients, thus excluding the C17orf1 and NIK genes as likely 
      sites of mutation FTDP-17.
FAU - Aronsson, F C
AU  - Aronsson FC
AD  - Department of Genetics and Pathology, Biomedical Center, Uppsala, Sweden.
FAU - Magnusson, P
AU  - Magnusson P
FAU - Andersson, B
AU  - Andersson B
FAU - Karsten, S L
AU  - Karsten SL
FAU - Shibasaki, Y
AU  - Shibasaki Y
FAU - Lendon, C L
AU  - Lendon CL
FAU - Goate, A M
AU  - Goate AM
FAU - Brookes, A J
AU  - Brookes AJ
LA  - eng
SI  - GENBANK/AJ008112
SI  - GENBANK/AJ008113
SI  - GENBANK/AJ008114
SI  - GENBANK/AJ008115
SI  - GENBANK/AJ008116
SI  - GENBANK/AJ008117
SI  - GENBANK/AJ008118
SI  - GENBANK/AJ008119
SI  - GENBANK/AJ008120
SI  - GENBANK/AJ008121
SI  - GENBANK/AJ008122
SI  - GENBANK/AJ008123
SI  - GENBANK/AJ008124
SI  - GENBANK/AJ008125
SI  - GENBANK/AJ008126
SI  - GENBANK/AJ008127
SI  - GENBANK/AJ008128
SI  - GENBANK/AJ008129
SI  - GENBANK/AJ008130
SI  - GENBANK/AJ008131
SI  - GENBANK/AJ008132
SI  - GENBANK/AJ008133
SI  - GENBANK/AJ008134
SI  - GENBANK/AJ008135
SI  - GENBANK/AJ008136
SI  - GENBANK/AJ008137
SI  - GENBANK/AJ008138
SI  - GENBANK/AJ008139
SI  - GENBANK/AJ008140
SI  - GENBANK/AJ008141
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SB  - IM
MH  - Carrier Proteins/genetics
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cloning, Molecular
MH  - DNA Primers/genetics
MH  - Dementia/*genetics
MH  - Exons/genetics
MH  - Humans
MH  - Introns/genetics
MH  - Mutation/genetics
MH  - Parkinson Disease/*genetics
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - NF-kappaB-Inducing Kinase
EDAT- 1998/11/03 00:00
MHDA- 1998/11/03 00:01
CRDT- 1998/11/03 00:00
PHST- 1998/11/03 00:00 [pubmed]
PHST- 1998/11/03 00:01 [medline]
PHST- 1998/11/03 00:00 [entrez]
AID - 10.1007/s004390050827 [doi]
PST - ppublish
SO  - Hum Genet. 1998 Sep;103(3):340-5. doi: 10.1007/s004390050827.