Results 51 to 60 of about 1,020 (134)

Fair and Square: Design, Synthesis and Biological Evaluations of Squaric Acid Derivatives as Novel HDAC8 Inhibitors

ChemMedChem, Volume 21, Issue 8, 28 April 2026.
Histone deacetylase 8 (HDAC8) is a clinically validated target in neuroblastoma, where isoform selective inhibition offers a strategy to suppress tumour growth while limiting off‐target toxicity. Hydroxamic acids remain the dominant zinc‐binding group (ZBG) in HDAC inhibitors but are also associated with metabolic instability, suboptimal ...
Nathan Long, Franz‐Josef Meyer‐Almes, Aleksandra Kopranovic, Stephen P. Wren   +3 more
wiley   +1 more source

Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/ Brachman de Lange syndrome in children

International Journal of Physical Therapy Research & Practice
Introduction: Cornelia de Lange syndrome (CdLS) is a rare genetic disease. Children with CdLS typically require physical therapy, however evidence on the efficacy of Physiotherapy intervention in this population is limited. Objective: The aim of this review is to design Physiotherapy treatment protocol for the CdLS population.
Amal Ali Arishi, Layla Hussain Arar Shammakhi, Mohammed Qasheesh, Rashid Ali Beg, Junaid A Kirmani, Bushra Alfaifi, Mohammad Abu Shaphe   +6 more
openaire   +1 more source

Audiological Characterization of Individuals with Cornelia de Lange Syndrome

International Archives of Otorhinolaryngology
Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate.
Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, Chong Ae Kim, Carla Gentile Matas   +4 more
doaj   +1 more source

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

Developmental Dynamics, Volume 255, Issue 4, Page 403-416, April 2026.
Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez, Niusha Banoukh, Fiona Mensching, Robert V. Skibbens, M. Kathryn Iovine   +4 more
wiley   +1 more source

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

Frontiers in Genetics, 2021
Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases.
Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang   +10 more
doaj   +1 more source

Cornelia de-Lange syndrome - A case report

Journal of Indian Academy of Oral Medicine and Radiology, 2018
Cornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism ...
Charvi Chawla, Prasanna Kumar Rao, Raghavendra Kini, Devika Shetty   +3 more
doaj   +1 more source

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

Medicina, 2020
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits.
Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen   +5 more
doaj   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 approved, 2 approved with reservations]

F1000Research, 2015
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development.
Vito Leanza, Gabriella Rubbino, Gianluca Leanza   +2 more
doaj   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source