Physician
Internal Medicine
Dr. Richard P. Lifton, MD
Richard P. Lifton practices Internal Medicine. Richard Lifton is also published. He has 99 publications published. The lastest publication: "Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.'
Publications
- Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome.
- Early and multiple origins of metastatic lineages within primary tumors.
- Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.
- Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
- Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
- Genomic landscape of cutaneous T cell lymphoma.
- Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
- Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK).
- New genetic loci link adipose and insulin biology to body fat distribution.
- Genetic studies of body mass index yield new insights for obesity biology.
- DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
- Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
- Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
- Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
- Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
- Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia.
- Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
- Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation.
- Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
- CANOES: detecting rare copy number variants from whole exome sequencing data.
- Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
- Serial exome analysis of disease progression in premalignant gammopathies.
- Phenotypic Expansion of DGKE-Associated Diseases.
- Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia.
- Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates.
- Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi.
- Multi-lineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23, and hypophosphatemia.
- Mutations in DSTYK and dominant urinary tract malformations.
- Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
- Epithelial morphogenesis of MDCK cells in three-dimensional collagen culture is modulated by interleukin-8.
- De novo mutations in histone-modifying genes in congenital heart disease.
- Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-?B pathway gene, HEATR3.
- Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4.
- Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
- New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.
- Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma.
- Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
- Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO.
- SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
- An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kin...
- Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors.
- Familial cortical myoclonus with a mutation in NOL3.
- Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
- The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions.
- Protein phosphatase 1 modulates the inhibitory effect of With-no-Lysine kinase 4 on ROMK channels.
- Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing.
- Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis.
- Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
- Low density lipoprotein (LDL) receptor-related protein 6 (LRP6) regulates body fat and glucose homeostasis by modulating nutrient sensing pathways and mitochondrial en...
- Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
- Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
- Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk.
- The DNA methylome of benign and malignant parathyroid tumors.
- WNK2 is a novel regulator of essential neuronal cation-chloride cotransporters.
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism.
- Recessive LAMC3 mutations cause malformations of occipital cortical development.
- AMP-activated protein kinase (AMPK) activation and glycogen synthase kinase-3β (GSK-3β) inhibition induce Ca2+-independent deposition of tight junction components at...
- Genome-wide association study identifies susceptibility loci for IgA nephropathy.
- On optimal pooling designs to identify rare variants through massive resequencing.
- Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.
- Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.
- K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
- Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation.
- A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.
- Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases.
- Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
- L-histidine decarboxylase and Tourette's syndrome.
- Genome-wide association study of intracranial aneurysm identifies three new risk loci.
- Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse.
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
- The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.
- COL4A1 mutation in preterm intraventricular hemorrhage.
- Src family protein tyrosine kinase (PTK) modulates the effect of SGK1 and WNK4 on ROMK channels.
- Sites of regulated phosphorylation that control K-Cl cotransporter activity.
- Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression.
- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
- Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
- Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus.
- Susceptibility loci for intracranial aneurysm in European and Japanese populations.
- Roles of the cation-chloride cotransporters in neurological disease.
- A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.
- Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells.
- Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
- Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy.
- A novel protein kinase signaling pathway essential for blood pressure regulation in humans.
- Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
- A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
- Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
- Molecular physiology of the WNK kinases.
- An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis.
- WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo.
- LRP6 mutation in a family with early coronary disease and metabolic risk factors.
- WNK protein kinases modulate cellular Cl- flux by altering the phosphorylation state of the Na-K-Cl and K-Cl cotransporters.
- Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.
- Genetic dissection of human blood pressure variation: common pathways from rare phenotypes.
- Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis.
Schools
Stanford University
Doctors Specialties
- Internal Medicine
Accepted Insurances
Education
-
Brigham and Women's Hospital
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