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Expression and localization of Artemis serine 516 phosphorylation in human scalp skin.
[omenn syndrome]
Artemis
phosphorylation
at
serine
516
(
Ser
516
)
has
important
regulatory
functions
in
the
repair
of
radiation-induced
DNA
damage
,
V
(
D
)
J
recombination
,
p
53
-
dependent
apoptosis
and
cell
cycle
control
.
Accordingly
,
Artemis
mutations
can
lead
to
Omenn
syndrome
,
which
is
associated
with
human
radiosensitive
severe
combined
immunodeficiency
syndrome
and
alopecia
.
In
this
study
,
we
investigated
the
expression
of
Ser
516
phosphorylation
of
Artemis
in
the
epidermis
and
epidermal
appendages
in
normal
human
scalp
skin
.
Immunofluorescence
analysis
revealed
Ser
516
phosphorylation
of
Artemis
in
the
upper
and
middle
portion
of
anagen
hair
follicle
[
including
outer
root
sheath
(
ORS
)
,
inner
root
sheath
but
not
stratum
basale
]
,
hair
matrix
,
sebaceous
glands
(
secretory
and
ductal
portions
)
,
eccrine
sweat
glands
(
secretory
and
ductal
portions
)
and
epidermis
(
stratum
basale
and
stratum
granulosum
)
,
respectively
.
Artemis
phosphorylation
at
Ser
516
was
most
prominent
in
ORS
keratinocytes
.
Therefore
,
we
suggest
that
phosphorylation
of
Artemis
at
Ser
516
could
be
involved
in
regulation
of
human
epidermal
appendages
.
Diseases
Validation
Diseases presenting
"alopecia"
symptom
cadasil
congenital adrenal hyperplasia
cutaneous mastocytosis
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
lamellar ichthyosis
oligodontia
omenn syndrome
pleomorphic liposarcoma
proteus syndrome
werner syndrome
This symptom has already been validated