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47 results on '"Lifton, Richard P"'

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1. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

2. Enhanced Ca2+signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+)

3. Integrated mutational landscape analysis of uterine leiomyosarcomas

5. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

6. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

8. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors

10. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition

11. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

12. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma

15. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas

19. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

20. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

21. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5

22. Common variant near the endothelin receptor type A ( EDNRA ) gene is associated with intracranial aneurysm risk

26. Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension

27. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

30. Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway

31. Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases

40. Paracellular Cl - permeability is regulated by WNK4 kinase: Insight into normal physiology and hypertension

43. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype

46. Finding genetic contributions to sporadic disease: A recessive locus at 12q24 commonly contributes to patent ductus arteriosus

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