228 results on '"Thierry-Mieg, Nicolas"'
Search Results
2. Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family.
3. Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia
4. Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse
5. A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
6. Author Response: Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
7. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
8. Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player
9. CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans
10. A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility
11. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function
12. Author Response: Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function
13. A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility
14. Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
15. Proto-genes and de novo gene birth
16. CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans.
17. A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
18. Protein Interaction Mapping in C. elegans Using Proteins Involved in Vulval Development
19. Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
20. Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
21. Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
22. New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella
23. Selective termination of lncRNA transcription promotes heterochromatin silencing and cell differentiation
24. SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
25. The [PSI+] prion modulates cytochrome c oxidase deficiency caused by deletion of COX12
26. Strategies for Building Protein–Glycosaminoglycan Interaction Networks Combining SPRi, SPR, and BLI
27. PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice
28. InterDB, a Prediction-Oriented Protein Interaction Database for C. elegans
29. A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females
30. Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa
31. From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene
32. Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B
33. The [PSI+] prion and HSP104 modulate cytochrome c oxidase deficiency caused by deletion of COX12
34. Interaction networks as a tool to investigate the mechanisms of aging
35. The sodium/proton exchanger SLC9C1 ( sNHE ) is essential for human sperm motility and fertility
36. Mapping Interactomes with High Coverage and Efficiency Using the Shifted Transversal Design
37. A protein–protein interaction map of the Caenorhabditis elegans 26S proteasome
38. From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
39. MatrixDB, the extracellular matrix interaction database
40. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
41. Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report
42. Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player
43. Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
44. MatrixDB, a database focused on extracellular protein–protein and protein–carbohydrate interactions
45. Interpool: interpreting smart-pooling results
46. CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia
47. InterDB, a Prediction-Oriented Protein Interaction Database for C. elegans
48. Protein Interaction Mapping in C. elegans Using Proteins Involved in Vulval Development
49. Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations
50. New insights into protein-protein interaction data lead to increased estimates of the S. cerevisiae interactome size
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.