Results 1 to 10 of about 1,307,717 (121)

Dominance-as-markedness

Studies in African Linguistics, 2019
This paper examines a formal consequence of the assumption that dominance is equivalent to markedness (Casali 2016): if dominant ATR values are marked and therefore specified, while recessive values are unmarked and unspecified, then no phonological ...
Katherine Hout
doaj   +3 more sources

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Beyond BMI: Genome‐Wide Associations of Visceral Fat, Fat Mass, and Fat‐Free Mass in Eastern Asian Populations

Obesity, EarlyView.
ABSTRACT Objective BMI is widely used to define obesity and may not capture heterogeneity in body fat distribution. Genetic studies of obesity have largely focused on BMI but not visceral fat and fat‐free mass, which is particularly limited in East Asian populations.
Hsin‐Ming Lu, Shun‐Jen Chang, Kuei‐Hau Luo, Yun‐Shiuan Chuang, Fu‐Wen Liang, Hung‐Yi Chuang   +5 more
wiley   +1 more source

Geopolitical Risk and Domestic Bank Deposits

Financial Management, EarlyView.
ABSTRACT We investigate the relationship between global geopolitical risk and bank deposit flows across a wide panel of European countries. Motivated by the pivotal role of deposit stability for financial intermediation and systemic resilience, we explore whether geopolitical shocks alter depositors’ portfolio choices.
Dimitris Anastasiou, Theodore Kapopoulos, Steven Ongena, Athanasios Sakkas   +3 more
wiley   +1 more source

Enhancing the Evidence for Care in Underserved Bleeding Disorders Communities

Haemophilia, EarlyView.
ABSTRACT Background Major advances in haemophilia care have not translated equitably across all populations. Individuals with rare bleeding disorders (RBDs), people living in low‐ and lower‐middle‐income countries (LMICs) and women and girls with inherited bleeding disorders (WGWBD) continue to face significant diagnostic, therapeutic and research ...
Johnny Mahlangu
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Testing for Non‐Severe Heritable Platelet Function Disorders

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley, Naomi Cornish, Maria Molina Carretero, Sarah K. Westbury   +3 more
wiley   +1 more source