Publications by authors named "Seth Alper"

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Kcnn4/KCa3.1 inhibition blunts polycystic kidney disease progression in mouse models.
Guanhan Yao, Almira Kurbegovic, Camila Parrot, William Foley, William Roman, Seth L Alper

JCI Insight· October 2025

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Animal models of Chiari malformation types 1 and 2: Mechanistic insights and translational challenges.
William Davalan, Qiang Li, Andrew T Hale, Baojian Fan, Phan Q Duy, Seth L Alper

Exp Neurol· September 2025

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Genetic determinants of urine and plasma metabolite levels.
Seth L Alper, David J Friedman

Nat Rev Nephrol· July 2025

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Clinical phenotypes among patients with familial forms of Chiari malformation type 1.
Kedous Y Mekbib, William Muñoz, Garrett Allington, Shujuan Zhao, Neel H Mehta, Seth L Alper

J Neurosurg Pediatr· July 2025

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Molecular hallmarks of hydrocephalus.
Andrew T Hale, Blake Zhou, Arjun Rajan, Phan Q Duy, Mubeen Goolam, Seth L Alper

Sci Transl Med· June 2025

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De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Garrett Allington, Neel H Mehta, Evan Dennis, Kedous Y Mekbib, Benjamin Reeves, Seth L Alper

Brain· May 2025

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Design and structural basis of selective 1,4-dihydropyridine inhibitors of the calcium-activated potassium channel K3.1.
Seow Theng Ong, Young-Woo Nam, Joshua A Nasburg, Alena Ramanishka, Xuan Rui Ng, Seth L Alper

Proc Natl Acad Sci U S A· May 2025

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Single-cell elderly blood-CSF atlas implicates peripherally influenced immune dysregulation in normal pressure hydrocephalus.
Phan Q Duy, Emre Kiziltug, Ana B W Greenberg, Neel H Mehta, Le T Hao, Seth L Alper

Proc Natl Acad Sci U S A· May 2025

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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.
Veronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, Angelo D'Alessandro, Monika Dzieciatkowska, Seth L Alper

Acta Neuropathol Commun· April 2025

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PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.
Tyrone DeSpenza, Emre Kiziltug, Garrett Allington, Daniel G Barson, Stephen McGee, Seth L Alper

Nat Neurosci· March 2025

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Expression and distribution of activin-follistatin-inhibin axis in the urinary bladder.
Weipu Mao, Tracy Zhang, Huan Chen, Sagar Barge, Zongwei Wang, Seth Alper

Front Mol Biosci· March 2025

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Genetics and molecular pathophysiology of normal pressure hydrocephalus.
Neel H Mehta, Eduardo A Maury, Zachary Buller, Phan Q Duy, Carla Fortes, Seth L Alper

J Neurosurg· February 2025

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Adiponectin signaling regulates urinary bladder function by blunting smooth muscle purinergic contractility.
Zhaobo Luo, Ali Wu, Simon Robson, Seth L Alper, Weiqun Yu

JCI Insight· February 2025

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TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Phan Q Duy, Bettina Jux, Shujuan Zhao, Kedous Y Mekbib, Evan Dennis, Seth L Alper

Brain· December 2024

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Differing sensitivities to angiotensin converting enzyme inhibition of kidney disease mediated by APOL1 high-risk variants G1 and G2.
Esilida Sula Karreci, Sonako Jacas, Olivia Donovan, Diana Pintye, Nicholas Wiley, Seth L Alper

Kidney Int· December 2024

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Genetic risk factors for Mesoamerican nephropathy.
David J Friedman, Dominick A Leone, Juan José Amador, Joseph Kupferman, Lauren J Francey, Seth L Alper

Proc Natl Acad Sci U S A· December 2024

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Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
Silvana Bazua-Valenti, Matthew R Brown, Jason Zavras, Magdalena Riedl Khursigara, Elizabeth Grinkevich, Seth L Alper

J Clin Invest· December 2024

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Activation of PIEZO1 Attenuates Kidney Cystogenesis In Vitro and Ex Vivo.
Qingfeng Fan, Mohamad Hadla, Zack Peterson, Grace Nelson, Hong Ye, Seth L Alper

Kidney360· November 2024

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INF2 mutations cause kidney disease through a gain-of-function mechanism.
Balajikarthick Subramanian, Sarah Williams, Sophie Karp, Marie-Flore Hennino, Sonako Jacas, Seth L Alper

Sci Adv· November 2024

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Adiponectin Signaling Regulates Urinary Bladder Function by Blunting Smooth Muscle Purinergic Contractility.
Zhaobo Luo, Ali Wu, Simon Robson, Seth Alper, Weiqun Yu

bioRxiv· October 2024

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Dietary potassium loads call on intercalated cell PIEZO1 to go with the flow.
Seth L Alper, Fouad T Chebib

Kidney Int· September 2024

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Molecular basis of TMED9 oligomerization and entrapment of misfolded protein cargo in the early secretory pathway.
Le Xiao, Xiong Pi, Alissa C Goss, Tarick El-Baba, Julian F Ehrmann, Seth L Alper

Sci Adv· September 2024

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Pathogenic variants in autism gene cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Tyrone DeSpenza, Amrita Singh, Garrett Allington, Shujuan Zhao, Junghoon Lee, Seth L Alper

Proc Natl Acad Sci U S A· July 2024

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Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS).
Balajikarthick Subramanian, Sarah Williams, Sophie Karp, Marie-Flore Hennino, Sonako Jacas, Seth L Alper

bioRxiv· June 2024

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Activation of Piezo1 Inhibits Kidney Cystogenesis.
Qingfeng Fan, Mohamad Hadla, Zack Peterson, Grace Nelson, Hong Ye, Seth L Alper

bioRxiv· May 2024

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