DOCSLIB.ORG
Explore
Sign Up
Log In
Upload
Search
Home
» Tags
» BBS2
BBS2
Inhibition of Hedgehog Signaling Suppresses Proliferation And
Loss of C. Elegans BBS-7 and BBS-8 Protein Function Results in Cilia Defects and Compromised Intraflagellar Transport
Supporting Information
Mouse Mutants As Models for Congenital Retinal Disorders
Composition and Function of the C1b/C1f Region in the Ciliary Central
BBS6, BBS10, and BBS12 Form a Complex with CCT/Tric Family Chaperonins and Mediate Bbsome Assembly
Supplementary Information – Postema Et Al., the Genetics of Situs Inversus Totalis Without Primary Ciliary Dyskinesia
Defects and Compromised Intraflagellar Transport BBS-7 and BBS-8 Protein Function Results in Cilia C. Elegans Loss Of
BBS6, BBS10, and BBS12 Form a Complex with CCT/Tric Family Chaperonins and Mediate Bbsome Assembly
Cystic Kidney Diseases and During Vertebrate Gastrulation
Leptin Resistance Contributes to Obesity and Hypertension in Mouse Models of Bardet-Biedl Syndrome
Ciliary Genes in Renal Cystic Diseases
Identification of a Novel Homozygous Missense (C. 443A> T: P. N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
Next Generation Sequencing Identifies Five Novel Mutations In
Bardet-Biedl Syndrome: a Study of the Renal and Cardiovascular Phenotypes in a French Cohort
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
(PKD2), Eccentric (XNTA), and Meckelin (MKS3) in the Ciliated Model Organism Paramecium Tetraurelia Megan Smith Valentine University of Vermont
Moving Proteins Along in the Cilium
Top View
Intraflagellar Transport Proteins Undergo Nonaxonemal Staged Hindrance Between the Recruiting Distal Appendages and the Cilium
Biedl Syndrome
BBS10 Gene Bardet-Biedl Syndrome 10
Carrier Frequency of Two BBS2 Mutations in the Ashkenazi Population
Recurrence Risks for Bardet-Biedl Syndrome: Implications of Locus Heterogeneity Julie C
Genetics and Genomics: Applications to Developmental Disability
1 Mutations in BBS2 Cause Apparent Nonsyndromic Retinitis Pigmentosa
Analysis of Six BBS Genes in a Bardet–Biedl Syndrome Family Cohort
Further Support for Digenic Inheritance in Bardet-Biedl Syndrome S Fauser, M Munz, D Besch
Structure and Activation Mechanism of the Bbsome Membrane-Protein Trafficking Complex Sandeep Singh1, Miao Gui1, Fujiet Koh1,2, Matthew C.J
0901219106SI.Pdf
Mutation Profile of BBS Genes in Patients with Bardet–Biedl Syndrome
A Knockin Mouse Model of the Bardet–Biedl Syndrome 1 M390R Mutation Has Cilia Defects, Ventriculomegaly, Retinopathy, and Obesity
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
Genotype-Phenotype Correlations in Bardet-Biedl Syndrome
Direct Evidence for Bbsome-Associated Intraflagellar
Bardet Biedl Syndrome