66 results on '"Lifton, Richard P"'
Search Results
2. Integrated mutational landscape analysis of uterine leiomyosarcomas
3. A genome-wide case-only test for the detection of digenic inheritance in human exomes
4. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy
5. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
6. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
7. Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling
8. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitor
9. Molecular and cellular reorganization of neural circuits in the human lineage
10. WNK3 Modulates Transport of Cl - in and out of Cells: Implications for Control of Cell Volume and Neuronal Excitability
11. WNK3 Kinase Is a Positive Regulator of NKCC2 and NCC, Renal $Cation-Cl^-$ Cotransporters Required for Normal Blood Pressure Homeostasis
12. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
13. The B1-Subunit of the H + ATPase Is Required for Maximal Urinary Acidification
14. A Heterodimer-Selective Agonist Shows in vivo Relevance of G Protein-Coupled Receptor Dimers
15. A Critical Role of Helix 3-Helix 5 Interaction in Steroid Hormone Receptor Function
16. Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder
17. A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy in the Mouse
18. A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA
19. Paracellular Cl- Permeability Is Regulated by WNK4 Kinase: Insight into Normal Physiology and Hypertension
20. Mapping a Locus for Susceptibility to HIV-1-Associated Nephropathy to Mouse Chromosome 3
21. WNK4 Regulates Apical and Basolateral Cl - Flux in Extrarenal Epithelia
22. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
23. Phosphorylation by PKC and PKA regulate the kinase activity and downstream signaling of WNK4
24. Epigenetic Abnormalities Associated with a Chromosome 18(q21-q22) Inversion and a Gilles de la Tourette Syndrome Phenotype
25. WNK1, a Kinase Mutated in Inherited Hypertension with Hyperkalemia, Localizes to Diverse Cl - -Transporting Epithelia
26. Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4
27. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
28. ACOX2 deficiency : A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
29. Finding Genetic Contributions to Sporadic Disease: A Recessive Locus at 12q24 Commonly Contributes to Patent Ductus Arteriosus
30. KRIT1, A Gene Mutated in Cerebral Cavernous Malformation, Encodes a Microtubule-Associated Protein
31. Human Hypertension Caused by Mutations in WNK Kinases
32. Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy
33. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption
34. Molecular Genetics of Human Blood Pressure Variation
35. Early and multiple origins of metastatic lineages within primary tumors
36. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma
37. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
38. Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK)
39. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas
40. Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation
41. KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)
42. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4
43. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
44. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
45. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma
46. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
47. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk
48. Skint-1 is a highly specific, unique selecting component for epidermal T cells
49. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
50. K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.