- Nipped-B-like
protein (
NIPBL), also
known as SCC2 or
delangin is a
protein that in
humans is
encoded by the
NIPBL gene.
NIPBL is
required for the ****ociation...
- and the
University of
Newcastle upon Tyne (England)
identified a gene (
NIPBL) on
chromosome 5 that
causes CdLS when it is mutated.
Since then, additional...
- SLC4A11
autosomal recessive Cornelia de
Lange syndrome (CDLS) HDAC8, SMC1A,
NIPBL, SMA3, RAD21 1:10,000-30,000
Cowden syndrome PTEN 1:200,000 CPO deficiency...
-
methyltransferase reductase MZB1:
Marginal zone B and B1 cell-specific
protein NIPBL: Nipped-B
homolog (Drosophila) NREP:
Neuronal regeneration related protein...
-
separase cleavage and a
region that is
competitively bound by PDS5A, PDS5B or
NIPBL. The C-terminal
domain of RAD21
forms a
winged helix that
binds two β-sheets...
-
mediated by
NIPBL and its
binding partner MAU2. In G1, WAPL
forms a
complex with PDS5 and
removes cohesin from the DNA but it is
reloaded by
NIPBL-MAU2. The...
- the SCC1 and SCC3 proteins. The
entire complex is
loaded onto DNA by the
NIPBL-MAU2
complex in a ring-like fashion. The
first level of
genome organization...
- Q9H841 10552 NIPAL3 HGNC:25233 Q6P499 10553 NIPAL4 HGNC:28018 Q0D2K0 10554
NIPBL HGNC:28862 Q6KC79 10555 NIPSNAP1 HGNC:7827 Q9BPW8 10556 NIPSNAP2 HGNC:4179...
-
cohesion are
referred to as cohesinopathies.
Genetic alterations in
genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8 are ****ociated with
Cornelia de
Lange Syndrome...
- RUNX1, FLT3, ERG, DYRK1A, CHAF1B, HLCS, CTCF, STAG2, RAD21, SMC3, SMC1A,
NIPBL, SUZ12, PRC2, JAK1, JAK2, JAK3, MPL, KRAS, NRAS, SH2B3, and MIR125B2 which...
