Results 81 to 90 of about 13,796 (248)

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

Journal of Hematology & Oncology, 2017
Thrombocytopenia 2 (THC2) is an inherited disorder caused by monoallelic single nucleotide substitutions in the 5’UTR of the ANKRD26 gene. Patients have thrombocytopenia and increased risk of myeloid malignancies, in particular, acute myeloid leukemia ...
Caterina Marconi, Ilaria Canobbio, Valeria Bozzi, Tommaso Pippucci, Giorgia Simonetti, Federica Melazzini, Silvia Angori, Giovanni Martinelli, Giuseppe Saglio, Mauro Torti, Ira Pastan, Marco Seri, Alessandro Pecci   +12 more
doaj   +1 more source

The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy – A case series and review of the literature

Research and Practice in Thrombosis and Haemostasis, 2020
Germline mutations of runt‐related transcription factor‐1 (RUNX1) cause familial platelet disorder with predisposition to myeloid malignancy (FPDMM), most commonly associated with thrombocytopenia and propensity to develop myeloid neoplasms.
Catherine Tang, David J. Rabbolini, Marie‐Christine Morel‐Kopp, David E. Connor, Philip Crispin, Christopher M. Ward, William S. Stevenson   +6 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Acquired thrombotic thrombocytopenia purpura associated with severe ADAMTS13 deficiency in a 3-year-old boy: a case report and review of the literature

Journal of Medical Case Reports, 2018
Background Acquired thrombotic thrombocytopenia purpura is very rarely encountered in children. It is often misdiagnosed initially when the condition is not inherited. Case presentation We describe a 3-year-old Malay boy who presented with simple febrile
Hamidah Alias, Woon Lee Yong, Farah Azima Abdul Muttlib, Ho Wai Koo, C-Khai Loh, Sie Chong Doris Lau, Hafiza Alauddin, Raja Zahratul Azma   +7 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Peripheral Blood DNA Methylation Changes Precede Lymphoma Diagnosis in Primary Sjögren's Disease

Arthritis &Rheumatology, EarlyView.
Objective Primary Sjögren's disease (SjD) is a systemic autoimmune disease associated with an increased risk of lymphoma. The molecular mechanisms underlying lymphomagenesis remain poorly understood, and sensitive biomarkers for early identification of patients at high risk of developing lymphoma are lacking.
Hanna Lidberg, Cecilia Fugmann, Juliana Imgenberg‐Kreuz   +2 more
wiley   +1 more source

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation. [PDF]

Int J Mol Sci, 2023
Marín-Quílez A, Díaz-Ajenjo L, Di Buduo CA, Zamora-Cánovas A, Lozano ML, Benito R, González-Porras JR, Balduini A, Rivera J, Bastida JM.   +9 more
europepmc   +1 more source

Inherited thrombocytopenias: from genes to therapy.

Haematologica, 2002
Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. Some of these diseases are exclusive to megakaryocytes and platelets, while in others the pathology extends to other cell types.
BALDUINI CL, IOLASCON A, SAVOIA, ANNA
openaire   +5 more sources