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1
المؤلفون: Erin Loring, Dawid Larysz, Richard P. Lifton, Kristopher T. Kahle, Andrew T. Timberlake, Derek M. Steinbacher, Carol Nelson-Williams, John A. Persing, Charuta G. Furey, Amy Galm, Jungmin Choi
المصدر: Proceedings of the National Academy of Sciences. 114
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, MAP Kinase Signaling System, Smad6 Protein, Penetrance, Biology, Bone morphogenetic protein, Craniosynostoses, 03 medical and health sciences, Osteogenesis, Locus heterogeneity, Exome Sequencing, medicine, Animals, Humans, Exome, Child, Gene, Exome sequencing, Genetics, Multidisciplinary, Wnt signaling pathway, Cranial Sutures, Sequence Analysis, DNA, medicine.disease, Phenotype, 030104 developmental biology, PNAS Plus, Child, Preschool, Bone Morphogenetic Proteins, Mutation, ras Proteins, Female, Haploinsufficiency, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab995d2ebfb5c81f100ded92c9cd12f
https://doi.org/10.1073/pnas.1709255114 -
2
المؤلفون: Diana Pacheco-Alvarez, Gabriela Michel, Ignacio Gimenez, Eva Muñoz, Norma Vázquez, Steven C. Hebert, José Ponce-Coria, Pedro San-Cristobal, Richard P. Lifton, Norma A. Bobadilla, Patricia Juárez, Paola de los Heros, Gerardo Gamba, Kristopher T. Kahle
المصدر: Proceedings of the National Academy of Sciences. 105:8458-8463
مصطلحات موضوعية: Threonine, Sodium-Potassium-Chloride Symporters, Xenopus, Amino Acid Motifs, Protein Serine-Threonine Kinases, Biology, Mice, Chlorides, Animals, Humans, Phosphorylation, Cells, Cultured, Solute Carrier Family 12, Member 1, Multidisciplinary, Protein-Serine-Threonine Kinases, urogenital system, Kinase, Reabsorption, Biological Sciences, WNK1, biology.organism_classification, Rats, Cell biology, WNK4, Biochemistry, Mutation, Oocytes, Cotransporter, Intracellular
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6b7b297bb005ce3e1a7329dfb602a9
https://doi.org/10.1073/pnas.0802966105 -
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المؤلفون: Richard P. Lifton, Qiang Leng, Frederick H. Wilson, Aaron M. Ring, Maria D. Lalioti, Jesse Rinehart, Kristopher T. Kahle, Heather M. Volkman, Steven C. Hebert, Sam X. Cheng
المصدر: Proceedings of the National Academy of Sciences. 104:4020-4024
مصطلحات موضوعية: Epithelial sodium channel, medicine.medical_specialty, Colon, Pseudohypoaldosteronism, Mice, Transgenic, Protein Serine-Threonine Kinases, Biology, Renin-Angiotensin System, Mice, Xenopus laevis, Internal medicine, medicine, Animals, Kinase activity, Epithelial Sodium Channels, Aldosterone, Multidisciplinary, urogenital system, WNK Lysine-Deficient Protein Kinase 1, Biological Sciences, Rats, Cell biology, WNK4, Endocrinology, Paracellular transport, Hypertension, Mutation, Oocytes, Hyperkalemia, Cotransporter, Flux (metabolism), Homeostasis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff01b27e2ba4d30ee59e4102237a55f
https://doi.org/10.1073/pnas.0611727104 -
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المؤلفون: Hatim Hassan, Richard P. Lifton, Biff Forbush, Peter S. Aronson, Ignacio Gimenez, Robert D. Wong, Frederick H. Wilson, Kristopher T. Kahle
المصدر: Proceedings of the National Academy of Sciences. 101:2064-2069
مصطلحات موضوعية: medicine.medical_specialty, Sodium-Potassium-Chloride Symporters, Blotting, Western, Protein Serine-Threonine Kinases, Kidney, Epithelium, Mice, Xenopus laevis, Chlorides, Internal medicine, medicine, SLC26A6, Animals, Humans, Solute Carrier Family 12, Member 2, RNA, Messenger, Ion transporter, Ion Transport, Multidisciplinary, biology, Tight junction, urogenital system, Reabsorption, Cell Polarity, Membrane Proteins, Membrane Transport Proteins, Pendrin, Biological Sciences, Immunohistochemistry, WNK4, Cell biology, Endocrinology, Sulfate Transporters, Oocytes, biology.protein, ROMK, Carrier Proteins, Cotransporter
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c36b2bc0a583a50593a5dcde2e5d8375
https://doi.org/10.1073/pnas.0308434100 -
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المؤلفون: Ernesto Sabath, Richard P. Lifton, Maria D. Lalioti, Robert S. Hoover, Steven C. Hebert, Alicia K. Rapson, Gerardo Gamba, Frederick H. Wilson, Kristopher T. Kahle
المصدر: Proceedings of the National Academy of Sciences. 100:680-684
مصطلحات موضوعية: Molecular Sequence Data, Protein Serine-Threonine Kinases, Xenopus Proteins, Biology, Mice, Xenopus laevis, medicine, Animals, Kinase activity, Ion Transport, Multidisciplinary, Base Sequence, Symporters, urogenital system, Sodium, Wild type, Pseudohypoaldosteronism, WNK Lysine-Deficient Protein Kinase 1, Biological Sciences, medicine.disease, WNK1, Sodium Chloride Symporters, WNK4, Cell biology, Biochemistry, Hypertension, Symporter, Hyperkalemia, Female, Cotransporter
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62825a092ca681c97c741e93584454b5
https://doi.org/10.1073/pnas.242735399