Search Results - "Introne, Wendy J"

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria by Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O'Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.

“…Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result,…”
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Genetic variants associated with Hermansky-Pudlak syndrome by Merideth, Melissa A., Introne, Wendy J., Wang, Jennifer A., O'Brien, Kevin J., Huizing, Marjan, Gochuico, Bernadette R.

“…Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical…”
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Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells by Gil-Krzewska, Aleksandra, PhD, Wood, Stephanie M., PhD, Murakami, Yousuke, PhD, Nguyen, Victoria, BSc, Cher Chiang, Samuel Cern, MSc, Cullinane, Andrew R., PhD, Peruzzi, Giovanna, PhD, Gahl, William A., MD, PhD, Coligan, John E., PhD, Introne, Wendy J., MD, Bryceson, Yenan T., PhD, Krzewski, Konrad, PhD

“…Background Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte…”
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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants by Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.

“…Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results…”
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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome by Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V

“…Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator ( ) gene. Diagnosis is…”
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The neuropsychological phenotype of Chediak-Higashi disease by Shirazi, Talia N, Snow, Joseph, Ham, Lillian, Raglan, Greta B, Wiggs, Edythe A, Summers, Angela C, Toro, Camilo, Introne, Wendy J

“…Chediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive…”
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising by Power, Bradley, Ferreira, Carlos R, Chen, Dong, Zein, Wadih M, O'Brien, Kevin J, Introne, Wendy J, Stephen, Joshi, Gahl, William A, Huizing, Marjan, Malicdan, May Christine V, Adams, David R, Gochuico, Bernadette R

“…Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to…”
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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion by Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan

“…Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The syndrome is primarily ascribed to a ∼3.7…”
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Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia by Malechka, Volha V., Duong, Dat, Bordonada, Keyla D., Turriff, Amy, Blain, Delphine, Murphy, Elizabeth, Introne, Wendy J., Gochuico, Bernadette R., Adams, David R., Zein, Wadih M., Brooks, Brian P., Huryn, Laryssa A., Solomon, Benjamin D., Hufnagel, Robert B.

“…To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and…”
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Aortic stenosis and vascular calcifications in alkaptonuria by Hannoush, Hwaida, Introne, Wendy J., Chen, Marcus Y., Lee, Sook-Jin, O'Brien, Kevin, Suwannarat, Pim, Kayser, Michael A., Gahl, William A., Sachdev, Vandana

“…Alkaptonuria is a rare metabolic disorder of tyrosine catabolism in which homogentisic acid (HGA) accumulates and is deposited throughout the spine, large…”
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Nitisinone: two decades treating hereditary tyrosinaemia type 1 by Introne, Wendy J

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Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism by Bhambhani, Vikas, Introne, Wendy J., Lungu, Codrin, Cullinane, Andrew, Toro, Camilo

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Chediak-Higashi syndrome by Talbert, Mackenzie L., Malicdan, May Christine V., Introne, Wendy J.

“…Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial…”
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LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size by Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.

“…Chediak–Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by biallelic mutations in the lysosomal trafficking regulator ( LYST ) gene. Even…”
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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features by Sharma, Prashant, McFadden, Jason R, Frost, F Graeme, Markello, Thomas C, Grange, Dorothy K, Introne, Wendy J, Gahl, William A, Malicdan, May Christine V

“…DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and…”
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An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome by Gil-Krzewska, Aleksandra, Saeed, Mezida B., Oszmiana, Anna, Fischer, Elizabeth R., Lagrue, Kathryn, Gahl, William A., Introne, Wendy J., Coligan, John E., Davis, Daniel M., Krzewski, Konrad

“…Chediak-Higashi syndrome (CHS) is a rare disorder caused by biallelic mutations in the lysosomal trafficking regulator gene (LYST), resulting in formation of…”
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Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial by Spears, Kathryn R., Rossignol, Francis, Perry, Monique B., Kayser, Michael A., Suwannarat, Pim, O'Brien, Kevin E., Bryant, Joy C., Greenwood, Wendy F., Fuller, Steve, Gahl, William A., Introne, Wendy J.

“…Alkaptonuria is a rare disorder of tyrosine catabolism caused by deficiency of homogentisate 1,2-dioxygenase that leads to accumulation of homogentisic acid…”
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Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size by Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.

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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature by Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V

“…Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological…”
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Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails by Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.

“…Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA molecules with cognate amino acids. Consistent with the essential…”
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