-
physiological features which define whether a
syndrome is a
ciliopathy.
Although ciliopathies are
usually considered to
involve proteins that
localize to...
-
plausible hypothesis for the
often multi-symptom
nature of
diverse ciliopathies.
Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome,...
- fibrosis, and
intellectual disability).
Nephronophthisis is a
ciliopathy.
Other known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome...
-
callosum 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...
-
known as
ciliopathies that are
caused by
mutations in
ciliary proteins.
Because of how
widespread cilia are,
defects can
cause ciliopathies in many different...
-
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...
- "Recent
advances in the
molecular pathology, cell
biology and
genetics of
ciliopathies".
Journal of
Medical Genetics. 45 (5): 257–267. doi:10.1136/jmg.2007...
-
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...
- CR,
Green WW,
Martens JR (2019). "Olfactory Loss and
Dysfunction in
Ciliopathies:
Molecular Mechanisms and
Potential Therapies".
Current Medicinal Chemistry...
