Article
Biochemistry & Molecular Biology
Sari Schokoroy Trangle, Tali Rosenberg, Hadar Parnas, Gilad Levy, Ela Bar, Asaf Marco, Boaz Barak
Summary: This study investigates the DNA methylation in the frontal cortex of individuals with Williams syndrome (WS) and reveals disruption in the methylome compared to typically developed controls. These differentially methylated sites are predominantly located in introns and intergenic loci and are highly enriched around binding sites for transcription factors related to neuronal development, plasticity, and cognition. The study also identifies abnormal methylation patterns in neurons and oligodendrocytes, as well as impaired neuron-glia interactions in WS. Furthermore, the comparison of methylation profiles from blood samples suggests putative targets associated with WS and other associated pathologies.
MOLECULAR PSYCHIATRY
(2023)
Article
Medicine, General & Internal
Beth A. Kozel, Boaz Barak, Chong Ae Kim, Carolyn B. Mervis, Lucy R. Osborne, Melanie Porter, Barbara R. Pober
Summary: Williams syndrome is a rare genetic disorder caused by the microdeletion of a region of chromosome 7q11.23. It affects about 1:7,500 individuals, with cardinal features including cardiovascular disease, distinctive craniofacial appearance, intellectual disability, and hypersociability. Diagnosis at an earlier age due to technological advances has allowed for earlier intervention, but factors responsible for phenotypic variability remain unknown.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Review
Biochemistry & Molecular Biology
Marta Ferrari, Stefano Stagi
Summary: Oxidative stress results from an imbalance in redox state, with DS and WBS being genetic conditions associated with oxidative stress and important causative genes affecting redox regulation. Symptoms such as early aging, dementia, autoimmunity, and chronic inflammation are linked to oxidative stress in these conditions.
Article
Biochemistry & Molecular Biology
Noura Abdalla, Ester Tobias-Baraja, Alejandro Gonzalez, Gloria Garrabou, Gustavo Egea, Victoria Campuzano
Summary: Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a strong cardiovascular phenotype and a distinct neurocognitive profile. The cardiovascular features of WBS are primarily linked to the hemizygosity of the elastin (ELN) gene, but the phenotypic variability suggests the presence of additional modulators. Mitochondrial dysfunction and dynamics have been implicated as potential modulators, and a WBS complete deletion (CD) model exhibits similar mitochondrial phenotypes as observed in WBS patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biology
Alba Navarro-Romero, Lorena Galera-Lopez, Paula Ortiz-Romero, Alberto Llorente-Ovejero, Lucia De los Reyes-Ramirez, Iker Bengoetxea de Tena, Anna Garcia-Elias, Aleksandra Mas-Stachurska, Marina Reixachs-Sole, Antoni Pastor, Rafael de la Torre, Rafael Maldonado, Begona Benito, Eduardo Eyras, Rafael Rodriguez-Puertas, Victoria Campuzano, Andres Ozaita
Summary: Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by intellectual disability and hypersocial behavior. This study suggests that modulation of the endocannabinoid system could be a potential therapeutic approach for treating WBS, as it improves both social and cognitive phenotypes in a mouse model.
Article
Clinical Neurology
Antonio G. Nicotera, Maria Spano, Alice Decio, Giulia Valentini, Maria Saia, Gabriella Di Rosa
Summary: Epilepsy is rare in Williams-Beuren syndrome patients, but studies have found it in patients with larger deletions. A case study showed that using cannabidiol as adjunctive therapy significantly reduced seizure frequency and intensity, improving motor and social skills in the patient.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis A. A. Perez-Jurado, Gustavo Egea, Victoria Campuzano
Summary: Williams-Beuren syndrome (WBS) is a rare disorder characterized by cardiovascular manifestations, including supra-valvular aortic stenosis (SVAS). We investigated the effects of curcumin and verapamil treatment on a WBS mouse model and found that only the combined therapy significantly improved cardiovascular parameters by reducing oxidative stress damage and activating the NRF2 pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Hui Liu, Zi-Hua Mo, Hang Yang, Zheng-Fu Zhang, Dian Hong, Long Wen, Min-Yin Lin, Ying-Yi Zheng, Zhi-Wei Zhang, Xiao-Wei Xu, Jian Zhuang, Shu-Shui Wang
Summary: This study aimed to construct an automatic facial recognition model for WBS diagnosis based on deep CNNs, utilizing image transfer learning to avoid over-fitting. The classification performance of the facial recognition models was evaluated through five-fold cross validation and comparison with human experts, highlighting the potential of deep CNNs in diagnosing WBS in clinical practice.
FRONTIERS IN PEDIATRICS
(2021)
Review
Biochemistry & Molecular Biology
Niko Linzer, Alexis Trumbull, Rukiye Nar, Matthew D. Gibbons, David T. Yu, John Strouboulis, Joerg Bungert
Summary: TFII-I, a key transcription factor, plays crucial roles in regulating Pol II transcription at the stages of initiation and elongation by interacting with various co-regulators and influencing transcription positively or negatively. Its expression changes are associated with a range of diseases and developmental processes, highlighting its important role in gene regulation.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Review
Endocrinology & Metabolism
Takara L. Stanley, Aaron Leong, Barbara R. Pober
Summary: Williams syndrome is a multisystem disorder caused by a microdeletion on chromosome 7q, leading to abnormalities in body composition and multiple endocrine axes throughout life. Recent studies have identified additional issues such as low bone mineral density, increased body fat, decreased muscle mass, diabetes, obesity, and a potential lipedema phenotype in individuals with this syndrome. Regular surveillance for these abnormalities by healthcare professionals is recommended.
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
(2021)
Review
Pediatrics
Yunan Wang, Chang Liu, Rong Hu, Juan Geng, Jian Lu, Xianzhe Zhao, Ying Xiong, Jing Wu, Aihua Yin
Summary: This study retrospectively evaluated 14 cases of Williams-Beuren syndrome (WBS) diagnosed prenatally by single nucleotide polymorphism array (SNP-array). The study found that prenatal ultrasound features of WBS cases are highly variable, with intrauterine growth retardation, cardiovascular abnormalities, and abnormal fetal placental doppler indices being the most common phenotypes.
FRONTIERS IN PEDIATRICS
(2023)
Article
Ophthalmology
Marco Nassisi, Claudia Mainetti, Andrea Sperti, Guido Galmozzi, Andrea Aretti, Gaia Leone, Valeria Nicotra, Federico Grilli, Berardo Rinaldi, Federica Natacci, Maria Francesca Bedeschi, Francesco Viola
Summary: This study describes retinal structural and microvascular alterations in patients with Williams-Beuren syndrome (WBS). The results show significantly reduced retinal thickness, broader and shallower fovea, and decreased vessel and perfusion density in WBS patients. These findings are of clinical importance for further research on WBS.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Jianrong Zhou, Ying Zheng, Guiying Liang, Xiaoli Xu, Jian Liu, Shaoxian Chen, Tongkai Ge, Pengju Wen, Yong Zhang, Xiaoqing Liu, Jian Zhuang, Yueheng Wu, Jimei Chen
Summary: This study identifies genes associated with neurodevelopmental abnormalities in patients with Williams-Beuren syndrome, suggesting that BAZ1B, FZD9, and STX1A may play important roles in neurodevelopment.
BMC MEDICAL GENOMICS
(2022)
Article
Psychiatry
Paolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, Cristina Caciolo, Paola Bergonzini, Maria Lisa Dentici, Stefano Vicari
Summary: Interstitial deletions of 7q11.23 cause Williams-Beuren Syndrome (WBS) while duplication of the same region leads to Duplication 7 Syndrome (Dup7). Children with WBS exhibit intellectual disability, impaired visual spatial abilities, anxiety problems, and enhanced social motivation, while children with Dup7 syndrome show reduced social motivation and impairment of expressive language. This study compared the adaptive functioning of children with WBS and Dup7, matched for IQ and chronological age. Surprisingly, no significant differences were found in the socialization and expressive subdomains. This suggests that children with WBS and Dup7 share more similarities than expected when matched for chronological age and cognitive level.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Behavioral Sciences
Paolo Alfieri, Francesco Scibelli, Maria C. Digilio, Roberta L. Novello, Cristina Caciolo, Giovanni Valeri, Stefano Vicari
Summary: The study found no significant difference in global adaptive level between children with WBS and ASD, with higher expressive skills in WBS children. Early interventions targeting social-pragmatic skills are necessary, as differences in adaptive profiles could be explained through a developmental perspective.
Article
Immunology
Luz Maria Mora-Velandia, Octavio Castro-Escamilla, Andres Gonzlez Mendez, Cristina Aguilar-Flores, Martha Velazquez-Avila, Maria Isabel Tussie-Luna, Juan Tellez-Sosa, Cesar Maldonado-Garcia, Fermin Jurado-Santacruz, Eduardo Ferat-Osorio, Jesus Martinez-Barnetche, Rosana Pelayo, Laura C. Bonifaz
FRONTIERS IN IMMUNOLOGY
(2017)
Article
Biochemistry & Molecular Biology
Maria B. Lazebnik, Maria Isabel Tussie-Luna, Ananda L. Roy
JOURNAL OF BIOLOGICAL CHEMISTRY
(2008)
Article
Multidisciplinary Sciences
Badam Enkhmandakh, Aleksandr V. Makeyev, Lkhamsuren Erdenechimeg, Frank H. Ruddle, Nyam-Osor Chimge, Maria Isabel Tussie-Luna, Ananda L. Roy, Dashzeveg Bayarsaihan
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2009)
Article
Oncology
Lenny N. Gallardo-Alvarado, Maria Teresa Tusie-Luna, Maria Isabel Tussie-Luna, Jose Diaz-Chavez, Yayoi X. Segura, Enrique Bargallo-Rocha, Cynthia Villarreal, Luis A. Herrera-Montalvo, Enrique M. Herrera-Medina, David F. Cantu-de Leon
Meeting Abstract
Oncology
L. N. Gallardo-Alvarado, D. F. Cantu-De Leon, T. Tusie-Luna, I. Tusie-Luna, J. Diaz-Chavez, E. M. Herrera, M. Chavez-MacGregor, E. Bargallo-Rocha, C. Villarreal, L. A. Herrera Montalvo, Y. X. Segura-Kato
Meeting Abstract
Oncology
Lenny Nadia Gallardo, Teresa Tusie-Luna, Maria Isabel Tusie-Luna, Jose Diaz-Chavez, Enrique Macario Herrera Medina, Mariana Chavez-Mac Gregor, Enrique Bargallo Rocha, Yayoi Xcchitl Segura Kato, Cynthia Villarreal, Luis Alonso Herrera Montalvo, David Franciso Cantu-de Leon
JOURNAL OF CLINICAL ONCOLOGY
(2016)
Meeting Abstract
Hematology
Lacayo-Lenero Dennis, Erick Crespo-Solis, Patricia Guzman-Uribe, Maria Isabel Tussie-Luna, Maria Teresa Tusie-Luna, Adriana Rosas-Lopez, Mabel Cerrillo-Hinojosa, Yayoi Segura-Kato
Article
Biochemistry & Molecular Biology
Shweta Hakre, Maria Isabel Tussie-Luna, Todd Ashworth, Carl D. Novina, Jeffrey Settleman, Phillip A. Sharp, Ananda L. Roy
Article
Biochemistry & Molecular Biology
M. I. Tussie-Luna, L. Rozo, A. L. Roy
Article
Biochemistry & Molecular Biology
MC Ku, SY Sokol, J Wu, MI Tussie-Luna, AL Roy, A Hata
MOLECULAR AND CELLULAR BIOLOGY
(2005)
Article
Biochemistry & Molecular Biology
C Sacrist n, MI Tussié-Luna, SM Logan, AL Roy
JOURNAL OF BIOLOGICAL CHEMISTRY
(2004)
Article
Biochemistry & Molecular Biology
D Tantin, MI Tussie-Luna, AL Roy, PA Sharp
JOURNAL OF BIOLOGICAL CHEMISTRY
(2004)
Article
Developmental Biology
D Bayarsaihan, N Bitchevaia, B Enkhmandakh, MI Tussie-Luna, JF Leckman, A Roy, F Ruddle
GENE EXPRESSION PATTERNS
(2003)
Article
Biochemistry & Molecular Biology
MI Tussié-Luna, B Michel, S Hakre, AL Roy
JOURNAL OF BIOLOGICAL CHEMISTRY
(2002)