Search Results - "Pri‐Chen, Hadass"

Hermansky–Pudlak syndrome: Mutation update by Huizing, Marjan, Malicdan, May C. V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.

“…Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS‐associated…”
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A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency by Malicdan, May Christine V., Vilboux, Thierry, Ben‐Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode‐Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos R., Shelestovich, Natalia, Marek‐Yagel, Dina, Pri‐Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., Anikster, Yair

“…Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a…”
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Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis by Cinar, Resat, Gochuico, Bernadette R, Iyer, Malliga R, Jourdan, Tony, Yokoyama, Tadafumi, Park, Joshua K, Coffey, Nathan J, Pri-Chen, Hadass, Szanda, Gergő, Liu, Ziyi, Mackie, Ken, Gahl, William A, Kunos, George

“…Idiopathic pulmonary fibrosis (IPF) is a life-threatening disease without effective treatment, highlighting the need for identifying new targets and treatment…”
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The Endocannabinoid System Mediates Cystogenesis in Tuberous Sclerosis Kidney Disease: FR-PO291 by Volovelsky, Oded, Abergel, Eden, Nechama, Morris, Chen, Hadass Pri

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Five-Month Impact of Tozinameran (BNT162b2) Vaccine on Kidney Transplant and Dialysis Patients: Serology and Clinical Outcomes: PO0151 by Elhalel, Michal Dranitzki, Tzukert, Keren, levi, Irit Mor yosef, Burstain, Ido, Chen, Hadass Pri, Oster, Yonatan, Wolf, Dana G., Ben-Dov, Iddo Z.

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Complete Remission Achieved With Single Agent CNTO 328, an Anti–IL-6 Monoclonal Antibody, in Relapsed and Refractory Myeloma by Chari, Ajai, Pri-Chen, Hadass, Jagannath, Sundar

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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy by Barel, Ortal, Malicdan, May Christine V, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G, Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Esther, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C, Gahl, William A, Rechavi, Gideon, Schrader, Michael, Eckmann, David M, Anikster, Yair

“…Cellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is…”
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Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations by Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair

“…Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This…”
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Erectile Dysfunction Associated With Bortezomib Treatment in a Patient With Multiple Myeloma and Amyloidosis by Pri-Chen, Hadass, Chari, Ajai

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Arginine depletion attenuates renal cystogenesis in tuberous sclerosis complex model by Amleh, Athar, Chen, Hadass Pri, Watad, Lana, Abramovich, Ifat, Agranovich, Bella, Gottlieb, Eyal, Ben-Dov, Iddo Z., Nechama, Morris, Volovelsky, Oded

“…Cystic kidney disease is a leading cause of morbidity in patients with tuberous sclerosis complex (TSC). We characterize the misregulated metabolic pathways…”
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