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Your search keyword '"Aycinena, Alicia R P"' showing total 12 results
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12 results on '"Aycinena, Alicia R P"'

1. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Author

Li, Dong, March, Michael E., Fortugno, Paola, Cox, Liza L., Matsuoka, Leticia S., Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C., Bedoukian, Emma C., Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia R. P., Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P., Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C., Zackai, Elaine H., Brancati, Francesco, Hakonarson, Hakon, and Bhoj, Elizabeth J.

Published
2021
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2. Ciliopathy: Senior-Løken Syndrome

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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3. Ciliopathy: Usher Syndrome

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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4. Ciliopathy: Bardet-Biedl Syndrome

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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5. Inborn Errors of Metabolism: Gyrate Atrophy

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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6. Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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7. Ciliopathy: Alström Syndrome

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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8. Mitochondrial Disorder: Kearns-Sayre Syndrome

Author

Tsang, Stephen H., Aycinena, Alicia R. P., Sharma, Tarun, COHEN, IRUN R., Editorial Board Member, LAJTHA, ABEL, Editorial Board Member, LAMBRIS, JOHN D., Editorial Board Member, PAOLETTI, RODOLFO, Editorial Board Member, REZAEI, NIMA, Editorial Board Member, Tsang, Stephen H., editor, and Sharma, Tarun, editor

Published
2018
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10. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Author

Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal, Paul, Maimuna S, Duncan, Anna R, Genetti, Casie A, Pan, Hongling, Jackson, Adam, Grant, Patricia E, Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P, Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobia, Alhamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexi, Mullegama, Sureni V, Palculict, Timothy Blake, Calame, Daniel G, Schwan, Katharina, Aycinena, Alicia R P, Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, and Agrawal, Pankaj B

Subjects
Genetics, epilepsy, Drosophila, DEAD-box protein, neurodevelopmental disorder, Genetics (clinical), Article, transcription factor
Abstract

Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulated gene repression. Here, we report on 15 individuals from 14 families presenting with global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all of whom have extremely rare de novo mono-allelic or inherited bi-allelic variants in EIF4A2. Neurodegeneration was predominantly reported in individuals with bi-allelic variants. Molecular modeling predicts these variants would perturb structural interactions in key protein domains. To determine the pathogenicity of the EIF4A2 variants in vivo, we examined the mono-allelic variants in Drosophila melanogaster (fruit fly) and identified variant-specific behavioral and developmental defects. The fruit fly homolog of EIF4A2 is eIF4A, a negative regulator of decapentaplegic (dpp) signaling that regulates embryo patterning, eye and wing morphogenesis, and stem cell identity determination. Our loss-of-function (LOF) rescue assay demonstrated a pupal lethality phenotype induced by loss of eIF4A, which was fully rescued with human EIF4A2 wild-type (WT) cDNA expression. In comparison, the EIF4A2 variant cDNAs failed or incompletely rescued the lethality. Overall, our findings reveal that EIF4A2 variants cause a genetic neurodevelopmental syndrome with both LOF and gain of function as underlying mechanisms.

Published
2023

11. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Author

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, and Agrawal PB

Published
2023
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12. Ciliopathy: Sjögren-Larsson Syndrome.

Author

Tsang SH, Aycinena ARP, and Sharma T

Subjects
Fovea Centralis pathology, Humans, Retina pathology, Ciliopathies physiopathology, Sjogren-Larsson Syndrome physiopathology
Abstract

Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism. About 50% have pigmentary degeneration of the retina, with decreased visual acuity and marked photophobia. Patients have dry, scaly skin (ichthyosis). Affected infants tend to be born prematurely. They also have neurological problems due to leukoencephalopathy (affecting the white matter of the brain). Intellectual disability varies from mild to severe, along with dysarthria and delayed speech.

Published
2018
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