Rh‐null phenotype and stomatocytosis

2021 ◽  
Author(s):  
Eva‐Leonne Göttgens ◽  
Peter C. Ligthart ◽  
Barbera Veldhuisen ◽  
Martijn Veldthuis ◽  
Masja Haas ◽  
...  
Keyword(s):  
Null Phenotype

Cytogenetic Investigation of the Rh(null) Phenotype

Vox Sanguinis ◽  
1974 ◽  
Vol 27 (2) ◽  
pp. 190-192
Author(s):  
W.L. Marsh ◽  
R.S.K. Chaganti ◽  
James German ◽  
S. Seidl ◽  
W. Spielmann
Keyword(s):  
Cytogenetic Investigation ◽  
Null Phenotype

scholarly journals Molecular Basis of the Kell-null Phenotype

2000 ◽  
Vol 276 (13) ◽  
pp. 10247-10252 ◽  
Author(s):  
Lung-Chih Yu ◽  
Yuh-Ching Twu ◽  
Ching-Yi Chang ◽  
Marie Lin
Keyword(s):  
Molecular Basis ◽  
Null Phenotype

The mutation spectrum of the JK-null phenotype in the Chinese population

Transfusion ◽  
2012 ◽  
Vol 53 (3) ◽  
pp. 545-553 ◽  
Author(s):  
Zhonghui Guo ◽  
Chen Wang ◽  
Kangfeng Yan ◽  
Jingwen Xie ◽  
Wei Shen ◽  
...  
Keyword(s):  
Chinese Population ◽  
Mutation Spectrum ◽  
Null Phenotype

Comparison of germline mosaics of genes in the Polycomb group of Drosophila melanogaster.

Genetics ◽  
1995 ◽  
Vol 140 (1) ◽  
pp. 231-243 ◽  
Author(s):  
M C Soto ◽  
T B Chou ◽  
W Bender
Keyword(s):  
Drosophila Melanogaster ◽  
Target Genes ◽  
Cell Types ◽  
Mitotic Recombination ◽  
Polycomb Group ◽  
Specific Cell ◽  
Independent Functions ◽  
Sex Combs ◽  
Null Phenotype ◽  
Additional Sex Combs

Abstract The genes of the Polycomb group (PcG) repress the genes of the bithorax and Antennapedia complexes, among others. To observe a null phenotype for a PcG gene, one must remove its maternal as well as zygotic contribution to the embryo. Five members of the PcG group are compared here: Enhancer of Polycomb [E(Pc)], Additional sex combs (Asx), Posterior sex combs (Psc), Suppressor of zeste 2 [Su (z) 2] and Polycomblike (Pcl). The yeast recombinase (FLP) system was used to induce mitotic recombination in the maternal germline. Mutant embryos were analyzed by staining with antibodies against six target genes of the PcG. The loss of the maternal component leads to enhanced homeotic phenotypes and to unique patterns of misexpression. E(Pc) and Su(z) 2 mutations had only subtle effects on the target genes, even when the maternal contributions were removed. Asx and Pcl mutants show derepression of the targets only in specific cell types. Psc shows unusual effects on two of the targets, Ultrabithorax and abdominal-A. These results show that the PcG genes do not act only in a common complex or pathway; they must have some independent functions.

scholarly journals Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency

1998 ◽  
Vol 95 (15) ◽  
pp. 8692-8697 ◽  
Author(s):  
B. Wilm ◽  
E. Dahl ◽  
H. Peters ◽  
R. Balling ◽  
K. Imai
Keyword(s):  
Targeted Disruption ◽  
Null Phenotype

The sequence and associated null phenotype of aC. elegans neurocalcin-like gene

genesis ◽  
2000 ◽  
Vol 26 (4) ◽  
pp. 234-239 ◽  
Author(s):  
S. Rajaram ◽  
M.M. Sedensky ◽  
P.G. Morgan
Keyword(s):  
Null Phenotype

A Single Mutation Inside the NPA Motif of Aquaporin-1 Found in a Colton-Null Phenotype

Blood ◽  
1999 ◽  
Vol 93 (11) ◽  
pp. 4021-4023 ◽  
Author(s):  
Stany Chrétien ◽  
Jean Pierre Cartron ◽  
Manuel de Figueiredo
Keyword(s):  
Single Mutation ◽  
Aquaporin 1 ◽  
Null Phenotype
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