(Q36951820)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

review article

1 reference

title

The retinal ciliopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

N A Adams

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Hassanain S Toma

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

1 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

113-125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17896309%20AND%20SRC:MED&resulttype=core&format=json

Abnormal axonemes in X-linked retinitis pigmentosa

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Primary cilia in normal and pathological tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Dynamic instability of microtubule growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

An incredible decade for the primary cilium: a look at a once-forgotten organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Establishing a connection between cilia and Bardet-Biedl Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Actin filaments and photoreceptor membrane turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Update on the molecular genetics of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RP1 is required for the correct stacking of outer segment discs

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Microtubule polymerization dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

CLIP-170 links endocytic vesicles to microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Cytoplasmic linker proteins promote microtubule rescue in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

X-linked recessive atrophic macular degeneration from RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Mutations in the RPGR gene cause X-linked cone dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGR mutation analysis and disease: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Movement of a karyophilic protein through the nuclear pores of oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A polypeptide domain that specifies migration of nucleoplasmin into the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The role of nucleophosmin in centrosome duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Major nucleolar proteins shuttle between nucleus and cytoplasm

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Cone and cone-rod dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Usher syndrome: molecular links of pathogenesis, proteins and pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Ophthalmologic findings in Usher syndrome type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Visual acuity and visual field impairment in Usher syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Kinetics of visual field loss in Usher syndrome Type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Presynaptic bodies ("ribbons"): from ultrastructural observations to molecular perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Hereditary renal dysplasia and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Joubert syndrome: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Differential tissue distribution of the Invs gene product inversin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Exploring the molecular basis of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The neuronal primary cilium--an extrasynaptic signaling device

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Distinct pigmentary and melanocortin 1 receptor-dependent components of cutaneous defense against ultraviolet radiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Alström syndrome. Report of 22 cases and literature review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Alms1-disrupted mice recapitulate human Alström syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

New insights into ciliary function: kidney cysts and photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Visual loss as the presenting sign of Jeune syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701537424