Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14

1988 ◽  
Vol 79 (3) ◽  
pp. 289-290 ◽  
Author(s):  
S. Bissbort ◽  
H. W. Hitzeroth ◽  
D. P. du Wentzel ◽  
C. W. Van den Berg ◽  
H. Senff ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Chromosome 14 ◽  
Variegate Porphyria ◽  
Alpha 1 Antitrypsin

scholarly journals Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity

2002 ◽  
Vol 22 (15) ◽  
pp. 5585-5592 ◽  
Author(s):  
Yang Soo Moon ◽  
Cynthia M. Smas ◽  
Kichoon Lee ◽  
Josep A. Villena ◽  
Kee-Hong Kim ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Growth Retardation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Tissue Mass ◽  
Imprinted Gene ◽  
Maternal Uniparental Disomy ◽  
Skeletal Malformation

ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

Molecular Cloning of an Inducible Cytotoxic T-Lymphocyte-Associated Gene (Hu-CTLA 1) and Gene Localization to Human Chromosome 14

1989 ◽  
pp. 574-577
Author(s):  
Patrick Haddad ◽  
Jean-Marc Zini ◽  
Marie-Veronique Clement ◽  
Jean-François Brunet ◽  
Marie-Genevieve Mattei ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Molecular Cloning ◽  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Gene Localization ◽  
Chromosome 14

Mapping of the bovine homologue of the human chromosome 14 open reading frame 4 (C14orf4) gene to BTA10q36

2004 ◽  
Vol 35 (6) ◽  
pp. 498-499 ◽  
Author(s):  
C. Drögemüller ◽  
H. Kuiper ◽  
A. Spötter ◽  
J. L. Williams ◽  
O. Distl
Keyword(s):  
Human Chromosome ◽  
Open Reading Frame ◽  
Chromosome 14 ◽  
Reading Frame

scholarly journals Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis.

1982 ◽  
Vol 79 (3) ◽  
pp. 870-873 ◽  
Author(s):  
G. J. Darlington ◽  
K. H. Astrin ◽  
S. P. Muirhead ◽  
R. J. Desnick ◽  
M. Smith
Keyword(s):  
Somatic Cell ◽  
Cell Hybrid ◽  
Somatic Cell Hybrid ◽  
Chromosome 14 ◽  
Hybrid Analysis ◽  
Alpha 1 Antitrypsin ◽  
Somatic Cell Hybrid Analysis

Assignment of the Transcription Factor GATA4 Gene to Human Chromosome 8 and Mouse Chromosome 14: Gata4 Is a Candidate Gene for Ds (Disorganization)

Genomics ◽  
1995 ◽  
Vol 27 (1) ◽  
pp. 20-26 ◽  
Author(s):  
Robert A. White ◽  
Lisa L. Dowler ◽  
Linda M. Pasztor ◽  
Laura L. Gatson ◽  
Linda R. Adkison ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Human Chromosome ◽  
Candidate Gene ◽  
Mouse Chromosome ◽  
Chromosome 8 ◽  
Chromosome 14

Candidate Genes Required for Embryonic Development: A Comparative Analysis of Distal Mouse Chromosome 14 and Human Chromosome 13q22

Genomics ◽  
2002 ◽  
Vol 79 (2) ◽  
pp. 154-161 ◽  
Author(s):  
Laurie Jo Kurihara ◽  
Ekaterina Semenova ◽  
Webb Miller ◽  
Robert S. Ingram ◽  
Xiao-Juan Guan ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Embryonic Development ◽  
Human Chromosome ◽  
Candidate Genes ◽  
Mouse Chromosome ◽  
Chromosome 14 ◽  
Distal Mouse Chromosome ◽  
Distal Mouse
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