Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

PY Hu, EJ Lim, J Ciccolella, P Strisciuglio… - Human …, 1997 - search.proquest.com
CA II is one of seven human carbonic anhydrase (CA) isozymes and is expressed in the
cytoplasm of some cells of virtually every human organ. Deficiency of CA II results in a syndrome …

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing …

GN Shah, G Bonapace, PY Hu, P Strisciuglio… - Human …, 2004 - Wiley Online Library
sequenced from CA IIdeficient patients. In this report, we amplified all seven exons by PCR
from genomic DNA and directly sequenced … general utility of the direct sequencing method for …

… exons of two electrophoretic alleles at the pigtail macaque carbonic anhydrase I locus as determined by direct, double-stranded sequencing of polymerase chain …

NCH Bergenhem, PJ Venta, PJ Hopkins… - Biochemical …, 1992 - Springer
… The PCR technique we used for direct sequencing of double-stranded DNA is relatively
fast, and the sequences of the exons for both electrophoretic alleles can be read at the same …

Carbonic anhydrase is an ancient enzyme widespread in prokaryotes

KS Smith, C Jakubzick, TS Whittam… - Proceedings of the …, 1999 - National Acad Sciences
… Distinct from all other β carbonic anhydrase sequences, the plant sequences form two
monophyletic groups representing monocotyledons and dicotyledons. All but one (Rhodobacter …

Carbonic anhydrases-an overview

CT Supuran - Current pharmaceutical design, 2008 - ingentaconnect.com
… The diatom carbonic anhydrase shows no significant sequence similarity with other carbonic
anhydrases and may represent an example of convergent evolution at the molecular level. …

The role of carbonic anhydrase in blood ion and acid-base regulation

RP Henry - American Zoologist, 1984 - academic.oup.com
… After direct sequencing of both strands using BigDye … the sequenced PCR products. Products
were loaded on an ABI3100 automated sequencer and analysis was done with Sequence

Innovative molecular diagnosis of Trichinella species based on β‐carbonic anhydrase genomic sequence

R Zolfaghari Emameh, M Kuuslahti… - Microbial …, 2016 - Wiley Online Library
… We selected β‐carbonic anhydrase (β‐ CA ) gene as a target… We first identified a β‐ CA
protein sequence from T richinella … to detect β‐ CA genomic sequences from three species of T …

Biomineralization-based conversion of carbon dioxide to calcium carbonate using recombinant carbonic anhydrase

BH Jo, DG Kang, CS Kim, YS Choi, HJ Cha - Chemosphere, 2012 - Elsevier
… ► Biomineralization-based conversion of CO 2 to biominerals using recombinant carbonic
anhydrase (CA) biocatalyst. ► … All cloned sequences were confirmed by direct sequencing. …

Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency

TA Sanyanga, B Nizami, Ö Tastan Bishop - Molecules, 2019 - mdpi.com
… We have identified the direct effects to … sequences within the α -CA family using the CA-II
sequence as the query. The BLASTp program was used to search for homologous sequences

Localization and characterization θ carbonic anhydrases in Thalassiosira pseudonana

H Nawaly, A Tanaka, Y Toyoshima, Y Tsuji… - Photosynthesis …, 2023 - Springer
… based on band size assay, direct sequencing, and TIDE analysis. Selected colonies were
replated and re-isolated under HC conditions until the WT sequence was eliminated. High-…