Rare Diseases Symptoms Automatic Extraction
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The Kindlin protein family: new members to the club of focal adhesion proteins.
[kindler syndrome]
Kindlins
are
a
group
of
proteins
that
have
recently
attracted
attention
for
their
ability
to
bind
and
activate
integrins
.
Moreover
,
they
have
also
been
linked
to
inherited
and
acquired
human
diseases
including
Kindler
syndrome
,
leukocyte
adhesion
deficiency
,
and
cancer
.
Although
most
studies
have
focused
on
kindlins
as
key
regulatory
components
of
cell-extracellular
matrix
junctions
such
as
focal
adhesions
,
preliminary
data
suggest
the
involvement
of
additional
cellular
compartments
in
mediating
their
functions
,
particularly
at
cell-cell
contacts
and
the
nucleus
.
Investigating
the
many
roles
of
kindlins
is
likely
to
expand
and
sharpen
our
view
on
the
versatility
of
integrin-mediated
cell
adhesion
,
the
nuclear
function
of
focal
adhesion
proteins
,
and
the
crosstalk
between
cell-cell
and
cell-matrix
adhesions
in
health
and
disease
.
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