Results 161 to 170 of about 256,394 (202)

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

Sclerostin regulates bone morphogenetic protein (BMP) bioavailability through interactions with BMP complexes and fibrillin microfibrils

The FEBS Journal, EarlyView.
Sclerostin (SOST) is a multifunctional extracellular modulator of BMP and Wnt signaling. SOST binds with high affinity to fibrillin‐1 and fibrillin‐2, localizing it to fibrillin microfibrils and regulating its extracellular bioavailability. Fibrillin‐bound SOST cannot engage BMP‐7 prodomain (PD) complexes, revealing a competitive mechanism that ...
Annkatrin Correns, Fady Marcous, Steffen Lütke, Matthias Mörgelin, Philipp Barnowski, Ariane G. Furlan, Nathalie H. Schröder, Bodo Levkau, Sarah Riek, Martin Mollenhauer, Manuel Koch, Gerhard Sengle   +11 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

Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis

Hepatology Research, EarlyView.
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose, Kota Tsuruya, Yusuke Mishima, Yoshitaka Arase, Koichi Shiraishi, Vu Thi Hao, Satsuki Ieda, Masayuki Tanaka, Sanae Isaki, Tatehiro Kagawa   +9 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

Is It Time to Raise the Threshold for Critically Low Fibrinogen? Insights From a Retrospective, Consecutive‐Case Cohort Study of Low Fibrinogen due to Various Causes

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Fibrinogen deficiency is an important coagulation abnormality, with diverse causes. Methods A consecutive‐case cohort study of adult and pediatric patients with low Clauss fibrinogen at four acute care hospitals was undertaken to explore findings, causes, and predictors of outcomes, including the optimal fibrinogen critical value ...
Natalie Mathews, Subia Tasneem, Mana Al Dawsari, Keona Pang, Yasmeen Abulkhair, Guillame Paré, Siraj Mithoowani, Catherine P. M. Hayward   +7 more
wiley   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source