58 results on '"Coucke, Paul"'
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2. Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos
3. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
4. A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation
5. Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing
6. G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
7. Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2
8. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum
9. The sqstm1tmΔUBA zebrafish model, a proof-of-concept in vivo model for Paget’s disease of bone?
10. Crispant screening in zebrafish as a promising approach for rapid functional screening of osteoporosis candidate genes
11. Biallelic variants in MESD, which encodes a WNT-signaling related protein, in four new families with recessively inherited osteogenesis imperfecta
12. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
13. Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis
14. Identification of skeletal deformities towards deep phenotyping of zebrafish (Danio rerio) connective tissue disease models
15. Lrp5 mutant and crispant zebrafish faithfully model human osteoporosis, establishing the zebrafish as a platform for CRISPR-based functional screening of osteoporosis candidate genes
16. Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
17. New insights on the clinical variability of FKBP10 mutations
18. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
19. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
20. Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish
21. A clinical scoring system for congenital contractural arachnodactyly
22. Arterial tortuosity syndrome: 40 new families and literature review
23. IRF2BPL Is Associated with Neurological Phenotypes
24. Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
25. IRF2BPL Is Associated with Neurological Phenotypes
26. A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
27. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
28. Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis
29. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia
30. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
31. Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum
32. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
33. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
34. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3′ end of FBN1 gene
35. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
36. Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
37. A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
38. Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants
39. The Ghent Marfan Trial — A randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers
40. Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage
41. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
42. Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa
43. Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity
44. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
45. Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
46. Identification of factors that maintain mammalian outer hair cells in adult organ of Corti explants
47. A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36
48. A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3
49. Chromosomal Mapping of Two Members of the Human Dynein Gene Family to Chromosome Regions 7p15 and 11q13 near the Deafness Loci DFNA 5 and DFNA 11
50. Linkage Analysis of Progressive Hearing Loss in Five Extended Families Maps the DFNA2 Gene to a 1.25-Mb Region on Chromosome 1p
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