91 results on '"Lifton, Richard P"'
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2. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
3. Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder
4. A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA
5. Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4
6. Human Hypertension Caused by Mutations in WNK Kinases
7. Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy
8. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption
9. Molecular Genetics of Human Blood Pressure Variation
10. KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)
11. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4
12. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
13. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration
14. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma
15. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
16. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
17. K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
18. Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6 R611C increases PDGF-dependent vascular smooth muscle cell proliferation
19. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
20. Genetic Diagnosis by Whole Exome Capture and Massively Parallel DNA Sequencing
21. Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (SeSAME Syndrome) Caused by Mutations in KCNJ10
22. Regulation of NKCC2 by a Chloride-Sensing Mechanism Involving the WNK3 and SPAK Kinases
23. A Translocation Causing Increased α-Klotho Level Results in Hypophosphatemic Rickets and Hyperparathyroidism
24. WNK4 Regulates Activity of the Epithelial Na⁺ Channel in vitro and in vivo
25. An SGK1 Site in WNK4 Regulates Na⁺ Channel and K⁺ Channel Activity and Has Implications for Aldosterone Signaling and K⁺ Homeostasis
26. LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors
27. A Mutation in the Epithelial Sodium Channel Causing Liddle Disease Increases Channel Activity in the Xenopus laevis Oocyte Expression System
28. Genetic Determinants of Human Hypertension
29. A De novo Missense Mutation of the β Subunit of the Epithelial Sodium Channel Causes Hypertension and Liddle Syndrome, Identifying a Proline-Rich Segment Critical for Regulation of Channel Activity
30. Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
31. Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
32. Calcineurin dephosphorylates Kelch-like 3, reversing phosphorylation by angiotensin II and regulating renal electrolyte handling.
33. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
34. Early and multiple origins of metastatic lineages within primary tumors.
35. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
36. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
37. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
38. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
39. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4.
40. Skint-1 is a highly specific, unique selecting component for epidermal T cells.
41. Absence of KMT2D/ MLL2 mutations in abdominal paraganglioma.
42. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
43. Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels.
44. Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WN K4-SPAK-dependent pathway.
45. Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
46. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
47. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
48. Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
49. A mutation in WNK4 that causes human hypertension activates the epithelial Na+ channel in vivo.
50. Phosphoregulation of the Na–K–2Cl and K–Cl cotransporters by the WNK kinases
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