Keywords: سندرم باردت-بیدل; AcTub; acetylated α-tubulin; BBS; Bardet-Biedl syndrome; βARKct; beta-adrenergic receptor kinase carboxyl-terminus; cAMP; cyclic AMP; C-tail; C-terminal tail; Epac; exchange protein directly activated by cAMP; ERK; extracellular signal-regulated kinas
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Bardet-Biedl syndrome: A model for translational research in rare diseases
Keywords: سندرم باردت-بیدل; AAV; adeno-associated vector; ADPKD; autosomal dominant polycystic kidney disease; BBS; Bardet-Biedl Syndrome; CDE; common data element; CRIBBS; Clinical Registry Investigating Bardet-Biedl Syndrome; DDAVP; desmopressin acetate; GRDR®; Global Rare Di
Bardet-Biedl syndrome: Is it only cilia dysfunction?
Keywords: سندرم باردت-بیدل; Bardet-Biedl syndrome; Cilia; Ciliopathies;
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms
Keywords: سندرم باردت-بیدل; Planar cell polarity; Bardet-Biedl syndrome; Cilia; Intracellular transport; Zebrafish; Prickle2; Kupffer׳s vesicle; Retinal neurogenesis;
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family
Keywords: سندرم باردت-بیدل; BBS; Bardet-Biedl syndrome; ID; intellectual disability; SNP; single nucleotide polymorphism; CF; counting finger; CT; computed tomography; SGPT; serum glutamate pyruvate transaminase; SGOT; serum glutamate oxaloacetic transaminase; CBC; complete blood
Tauroursodeoxycholic acid protects retinal neural cells from cell death induced by prolonged exposure to elevated glucose
Keywords: سندرم باردت-بیدل; AGEs; advanced glycation end products; AIF; apoptosis-inducing factor; BBS; Bardet-Biedl syndrome; DCF; dichlorodihydrofluorescein; DNPH; 2,4-dinitrophenylhydrazine; DPBS; Dulbecco's PBS solution; ECF; enhanced chemifluorescence; EDTA; ethylenediamine
The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis
Keywords: سندرم باردت-بیدل; IFT; intraflagellar transport; BBS; Bardet-Biedl syndrome; JATD; Jeune asphyxiating thoracic dystrophy; SRPIII; short rib polydactyly type III; ALP; alkaline phosphatase; BMP; bone morphogenetic protein; RUNX2; Runt-related transcription factor 2; OCN;
A role for the vesicle-associated tubulin binding protein ARL6 (BBS3) in flagellum extension in Trypanosoma brucei
Keywords: سندرم باردت-بیدل; Arf; ADP-ribosylation factor; Arl; ADP-ribosylation factor-like; Arl6ip; Arl6 interacting protein; BBS; Bardet-Biedl syndrome; BBS1; Bardet-Biedl syndrome 1 protein; BSF; bloodstream form; ConA; Concanavalin A; GEF; guanine nucleotide exchange factor;
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
Keywords: سندرم باردت-بیدل; McKusick-Kaufman syndrome; Bardet-Biedl syndrome; Hydrometrocolpos; Centrosome/primary cilia; Hypospadias; Polydactyly;