1,459 results on '"Lifton, Richard P"'
Search Results
52. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
53. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
54. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
55. Mutations in DSTYK and Dominant Urinary Tract Malformations
56. De novo mutations in histone-modifying genes in congenital heart disease.
57. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
58. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation
59. Insights into genetics, human biology and disease gleaned from family based genomic studies
60. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
61. Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing
62. Familial cortical myoclonus with a mutation in NOL3.
63. WNK3 Modulates Transport of Cl - in and out of Cells: Implications for Control of Cell Volume and Neuronal Excitability
64. WNK3 Kinase Is a Positive Regulator of NKCC2 and NCC, Renal $Cation-Cl^-$ Cotransporters Required for Normal Blood Pressure Homeostasis
65. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
66. The B1-Subunit of the H + ATPase Is Required for Maximal Urinary Acidification
67. A Heterodimer-Selective Agonist Shows in vivo Relevance of G Protein-Coupled Receptor Dimers
68. A Critical Role of Helix 3-Helix 5 Interaction in Steroid Hormone Receptor Function
69. Syndromic Patent Ductus Arteriosus: Evidence for Haploinsufficient TFAP2B Mutations and Identification of a Linked Sleep Disorder
70. A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy in the Mouse
71. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
72. A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA
73. Paracellular Cl- Permeability Is Regulated by WNK4 Kinase: Insight into Normal Physiology and Hypertension
74. Mapping a Locus for Susceptibility to HIV-1-Associated Nephropathy to Mouse Chromosome 3
75. WNK4 Regulates Apical and Basolateral Cl - Flux in Extrarenal Epithelia
76. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
77. Phosphorylation by PKC and PKA regulate the kinase activity and downstream signaling of WNK4
78. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
79. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
80. Epigenetic Abnormalities Associated with a Chromosome 18(q21-q22) Inversion and a Gilles de la Tourette Syndrome Phenotype
81. WNK1, a Kinase Mutated in Inherited Hypertension with Hyperkalemia, Localizes to Diverse Cl - -Transporting Epithelia
82. Molecular Pathogenesis of Inherited Hypertension with Hyperkalemia: The Na-Cl Cotransporter Is Inhibited by Wild-Type but Not Mutant WNK4
83. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
84. ACOX2 deficiency : A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
85. Finding Genetic Contributions to Sporadic Disease: A Recessive Locus at 12q24 Commonly Contributes to Patent Ductus Arteriosus
86. KRIT1, A Gene Mutated in Cerebral Cavernous Malformation, Encodes a Microtubule-Associated Protein
87. Human Hypertension Caused by Mutations in WNK Kinases
88. Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy
89. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg$^{2+}$ Resorption
90. Advillin acts upstream of phospholipase C [epsilon]1 in steroid-resistant nephrotic syndrome
91. CLCN2 chloride channel mutations in familial hyperaldosteronism type II
92. Robust identification of mosaic variants in congenital heart disease
93. Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
94. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
95. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus
96. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
97. PL-4: INSIGHTS INTO MOLECULAR MECHANISMS OF HYPERTENSION FROM HUMAN GENETICS
98. Molecular Genetics of Human Blood Pressure Variation
99. Early and multiple origins of metastatic lineages within primary tumors
100. Additional file 1 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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