Results 121 to 130 of about 144,099 (307)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Delineating abnormal individual structural covariance brain network organization in pediatric epilepsy with unilateral resection of visual cortex

Epilepsy & Behavior Reports
Although several previous studies have used resting-state functional magnetic resonance imaging and diffusion tensor imaging to report topological changes in the brain in epilepsy, it remains unclear whether the individual structural covariance network ...
Liang Zhang, Bei Zhuang, Mengyuan Wang, Jie Zhu, Tao Chen, Yang Yang, Haoting Shi, Xiaoming Zhu, Li Ma   +8 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Functional Segregation of Epileptogenicity within the Human Amygdala

Annals of Neurology, EarlyView.
Objective In temporal lobe epilepsy (TLE), the amygdala in the epileptogenic network is underestimated compared to other regions such as the hippocampus. Recent advances in anatomical neuroimaging and stereoelectroencephalography (SEEG) signal analyses could help better understand the involvement of the different amygdala nuclei in the genesis of ...
Odile Feys, Julia Makhalova, Samuel Medina Villalon, Maria Fratello, Hugo Dary, Stanislas Lagarde, Francesca Pizzo, Agnès Trébuchon, Maxime Guye, Jean‐Philippe Ranjeva, Romain Carron, Didier Scavarda, Christian‐George Bénar, Bernard Giusiano, Fabrice Bartolomei   +14 more
wiley   +1 more source

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova, Christina van der Linden, Ningfei Li, Konstantin Butenko, Thea Berger, Garance M. Meyer, Ilkem Aysu Sahin, Lukas L. Goede, Bahne H. Bahners, Barbara Hollunder, Till A. Dembek, Andrew R. Pines, Martin Reich, Jens Volkmann, Vincent J. J. Odekerken, Rob M. A. de Bie, Xin Xu, Zhipei Ling, Chen Yao, Andrea A. Kühn, Surjo R. Soekadar, Kerstin Ritter, Michael T. Barbe, Veerle Visser‐Vandewalle, Michael D. Fox, Jan Niklas Petry‐Schmelzer, Nanditha Rajamani, Andreas Horn   +27 more
wiley   +1 more source

Implementing an epilepsy surgery center. Initial experience at a university hospital in Brazil

Arquivos de Neuro-Psiquiatria
Epilepsy is a serious neurological condition, often without a full and effective treatment. In some cases, surgery is beneficial, despite being underused.
Gabriel Pereira Escudeiro, Rafael Teixeira Magalhães Leal, Heros Henrique Melo de Almeida, Marcus Andre Aciolly, José Alberto Landeiro, Bruno Lima Pessoa   +5 more
doaj   +1 more source

Protein‐Template Gold Nanoclusters Induce Differentiation and Modify the Functional Properties of Primary Astrocytes

Advanced NanoBiomed Research, EarlyView.
The incubation of primary astrocytes with fAuNCs‐BSA induces: (A) long‐term effects including fAuNCs‐BSA internalization, red cell fluorescence, differentiation, upregulation of Ca2+ signaling, Cl‐current, and cell volume regulation. B) Short‐term (200 ms) stimulation with UV LED light increases in Ca2+ signaling and inhibition of K+ current. Astrocyte
Roberta Fabbri, Karima Jeneh Perry, Emanuela Saracino, Chiara Lazzarini, Anna Mariano, Diletta Spennato, Maria Grazia Mola, Maria Grazia Raucci, Alessandro Kovtun, Marianna Barbalinardo, Giorgia Conte, Denis Gentili, Marco Caprini, Vincenzo Palermo, Roberto Zamboni, Luigi Ambrosio, Wolfgang Losert, Andrea Candini, Grazia Paola Nicchia, Raj K. Gupta, Valentina Benfenati, Shashi P. Karna   +21 more
wiley   +1 more source