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Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
[kabuki syndrome]
To
unravel
the
system
of
epigenetic
control
of
transcriptional
regulation
is
a
fascinating
and
important
scientific
pursuit
.
Surprisingly
,
recent
successes
in
gene
identification
using
high
-throughput
sequencing
strategies
showed
that
,
despite
their
ubiquitous
role
in
transcriptional
control
,
dysfunction
of
chromatin-modifying
enzymes
can
cause
very
specific
human
developmental
phenotypes
.
An
intriguing
example
is
the
identification
of
de
novo
dominant
mutations
in
MLL
2
as
a
cause
of
Kabuki
syndrome
,
a
well-known
congenital
syndrome
that
is
associated
with
a
very
recognizable
facial
gestalt
.
However
,
the
existing
confusion
in
the
nomenclature
of
the
human
and
mouse
MLL
gene
family
impedes
correct
interpretation
of
scientific
findings
for
these
genes
and
their
encoded
proteins
.
This
Review
aims
to
point
out
this
nomenclature
pitfall
,
to
explain
its
historical
background
,
and
to
promote
an
unequivocal
nomenclature
system
for
chromatin-modifying
enzymes
as
proposed
by
Allis
et
al
.
(
2007
)
.
Diseases
Validation
Diseases presenting
"mouse mll gene family impedes correct interpretation of scientific findings for these genes and their encoded proteins"
symptom
kabuki syndrome
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