Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Melanocytes and their diseases.
[oculocutaneous albinism]
Human
melanocytes
are
distributed
not
only
in
the
epidermis
and
in
hair
follicles
but
also
in
mucosa
,
cochlea
(
ear
)
,
iris
(
eye
)
,
and
mesencephalon
(
brain
)
among
other
tissues
.
Melanocytes
,
which
are
derived
from
the
neural
crest
,
are
unique
in
that
they
produce
eu-
/
pheo-melanin
pigments
in
unique
membrane-bound
organelles
termed
melanosomes
,
which
can
be
divided
into
four
stages
depending
on
their
degree
of
maturation
.
Pigmentation
production
is
determined
by
three
distinct
elements
:
enzymes
involved
in
melanin
synthesis
,
proteins
required
for
melanosome
structure
,
and
proteins
required
for
their
trafficking
and
distribution
.
Many
genes
are
involved
in
regulating
pigmentation
at
various
levels
,
and
mutations
in
many
of
them
cause
pigmentary
disorders
,
which
can
be
classified
into
three
types
:
hyperpigmentation
(
including
melasma
)
,
hypopigmentation
(
including
oculocutaneous
albinism
[
OCA
]
)
,
and
mixed
hyper-
/
hypopigmentation
(
including
dyschromatosis
symmetrica
hereditaria
)
.
We
briefly
review
vitiligo
as
a
representative
of
an
acquired
hypopigmentation
disorder
.
Diseases
Validation
Diseases presenting
"and mutations in many of them cause pigmentary disorders"
symptom
oculocutaneous albinism
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