- A
ciliopathy is any
genetic disorder that
affects the
cellular cilia or the
cilia anchoring structures, the
basal bodies, or
ciliary function. Primary...
- most
common genetic cause of
childhood kidney failure. It is a form of
ciliopathy. Its
incidence has been
estimated to be 0.9
cases per
million people in...
-
pressure over a long
period of time, and, in some cases, by
ciliopathy,
including ciliopathy due to
primary ciliary dyskinesia. The term
derives from the...
-
transition zone.
Inherited defects in
components of the
transition zone
cause ciliopathies, such as
Joubert syndrome.
Transition zone
structure and
function is...
- phenotypically-observed disorders. Thus, Meckel–Gruber
syndrome is a
ciliopathy.
Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome...
-
syndrome is one such disease, part of an
emerging class of
diseases called ciliopathies. The
underlying cause may be a
dysfunctional molecular mechanism in the...
-
member of an
emerging class of
diseases called ciliopathies. The
underlying cause of the
ciliopathies may be a
dysfunctional molecular mechanism in the...
-
being disrupted or not completed, and the
syndrome can be
classified as a
ciliopathy. The
syndrome is
typically diagnosed based on the symptoms, but genetic...
-
involved in the
formation of
cellular cilia,
making Alström
syndrome a
ciliopathy. At
least 239 disease-causing
mutations in ALMS1 have been
described as...
-
Anencephaly is one such disease, part of an
emerging class of
diseases called ciliopathies. The
underlying cause may be a
dysfunctional molecular mechanism in the...
