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The role of vertebrate nonmuscle Myosin II in development and human disease.
[congenital diaphragmatic hernia]
Three
different
genes
each
located
on
a
different
chromosome
encode
the
heavy
chains
of
nonmuscle
myosin
II
in
humans
and
mice
.
This
review
explores
the
functional
consequences
of
the
presence
of
three
isoforms
during
embryonic
development
and
beyond
.
The
roles
of
the
various
isoforms
in
cell
division
,
cell-cell
adhesion
,
blood
vessel
formation
and
neuronal
cell
migration
are
addressed
in
animal
models
and
at
the
cellular
level
.
Particular
emphasis
is
placed
on
the
role
of
nonmuscle
myosin
II
during
cardiac
and
brain
development
,
and
during
closure
of
the
neural
tube
and
body
wall
.
Questions
addressed
include
the
consequences
on
organ
development
,
of
lowering
or
ablating
a
particular
isoform
as
well
as
the
effect
of
substituting
one
isoform
for
another
,
all
in
vivo
.
Finally
the
roles
of
the
three
isoforms
in
human
diseases
such
as
cancer
as
well
as
in
syndromes
affecting
a
variety
of
organs
in
humans
are
reviewed
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
