183 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. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma
6. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
7. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
8. Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling
9. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitor
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. The B1-Subunit of the H + ATPase Is Required for Maximal Urinary Acidification
13. A Heterodimer-Selective Agonist Shows in vivo Relevance of G Protein-Coupled Receptor Dimers
14. A Critical Role of Helix 3-Helix 5 Interaction in Steroid Hormone Receptor Function
15. Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder
16. A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy in the Mouse
17. Paracellular Cl- Permeability Is Regulated by WNK4 Kinase: Insight into Normal Physiology and Hypertension
18. Mapping a Locus for Susceptibility to HIV-1-Associated Nephropathy to Mouse Chromosome 3
19. WNK4 Regulates Apical and Basolateral Cl - Flux in Extrarenal Epithelia
20. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
21. Phosphorylation by PKC and PKA regulate the kinase activity and downstream signaling of WNK4
22. Epigenetic Abnormalities Associated with a Chromosome 18(q21-q22) Inversion and a Gilles de la Tourette Syndrome Phenotype
23. WNK1, a Kinase Mutated in Inherited Hypertension with Hyperkalemia, Localizes to Diverse Cl - -Transporting Epithelia
24. Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4
25. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
26. ACOX2 deficiency : A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
27. Finding Genetic Contributions to Sporadic Disease: A Recessive Locus at 12q24 Commonly Contributes to Patent Ductus Arteriosus
28. KRIT1, A Gene Mutated in Cerebral Cavernous Malformation, Encodes a Microtubule-Associated Protein
29. Early and multiple origins of metastatic lineages within primary tumors
30. Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK)
31. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas
32. Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation
33. KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)
34. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4
35. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
36. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma
37. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
38. Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk
39. Skint-1 is a highly specific, unique selecting component for epidermal T cells
40. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
41. Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6 R611C increases PDGF-dependent vascular smooth muscle cell proliferation
42. Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension
43. Genetic Diagnosis by Whole Exome Capture and Massively Parallel DNA Sequencing
44. Src Family Protein Tyrosine Kinase (PTK) Modulates the Effect of SGK1 and WNK4 on ROMK Channels
45. Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (SeSAME Syndrome) Caused by Mutations in KCNJ10
46. Angiotensin II Signaling Increases Activity of the Renal Na-Cl Cotransporter through a WNK4-SPAK-Dependent Pathway
47. Regulation of NKCC2 by a Chloride-Sensing Mechanism Involving the WNK3 and SPAK Kinases
48. A Translocation Causing Increased α-Klotho Level Results in Hypophosphatemic Rickets and Hyperparathyroidism
49. WNK4 Regulates Activity of the Epithelial Na⁺ Channel in vitro and in vivo
50. An SGK1 Site in WNK4 Regulates Na⁺ Channel and K⁺ Channel Activity and Has Implications for Aldosterone Signaling and K⁺ Homeostasis
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