Results 171 to 180 of about 12,076 (219)

Multifaceted Primary Ciliary Dyskinesia-A Case Report. [PDF]

Reports (MDPI)
Yahya D, Benkova-Petrova M, Petrov A, Hachmeriyan M.   +3 more
europepmc   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies. [PDF]

Clin Genet
Boutaud L, Li C, Moncler C, Verlin L, Garfa-Traoré M, Bourgon N, Akbari D, Porée J, Serpieri V, Panza M, Haddad L, Nitschké P, Aziza J, Matt C, Valente EM, Gargallo P, Dubucs C, Attié-Bitach T, Leroux MR, Thomas S.   +19 more
europepmc   +1 more source

Broadening horizons: new links between cilia and heart development and disease. [PDF]

Front Cardiovasc Med
Ma W, Zhang Z, Ma Y, Ma C.
europepmc   +1 more source

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

A functional and therapeutic investigation of ciliopathy proteins and ciliopathies

openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Motile ciliopathies

Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia, Nielsen, Kim G., Kuehni, Claudia E., Lucas, Jane, Leigh, Margaret W., Zariwala, Maimoona A., Omran, Heymut   +6 more
  +9 more sources