Results 81 to 90 of about 2,254,317 (172)

First Report of MPL c.23T>G (p.M8R) Variant in Congenital Amegakaryocytic Thrombocytopenia: A Case Report

eJHaem, Volume 6, Issue 5, October 2025.
ABSTRACT Congenital amegakaryocytic thrombocytopenia is a rare inherited bone marrow failure syndrome primarily caused by MPL gene mutations. It presents with severe neonatal thrombocytopenia and typically progresses to pancytopenia. We report the first disease‐associated case of the MPL variant c.23T>G, identified through whole‐exome sequencing in an ...
Atbin Latifi, Sina Yousefian
wiley   +1 more source

Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman‐Diamond syndrome or new condition?

Clinical Case Reports, 2017
Key Clinical Message This case underscores the difficulty in diagnosis of bone marrow failure disorders, as the presentation of disease can be inconsistent, complicated by complex and ever‐expanding genetic etiologies.
Matthew C. Fadus, Eric T. Rush, Christina K. Lettieri   +2 more
doaj   +1 more source

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman–Diamond syndrome: Evidence from a multimodal approach

NeuroImage: Clinical, 2015
Shwachman–Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and ...
Sandra Perobelli, Franco Alessandrini, Giada Zoccatelli, Elena Nicolis, Alberto Beltramello, Baroukh M. Assael, Marco Cipolli   +6 more
doaj   +1 more source

Non‐Surgical Periodontal Therapy Modulates Oral Microbiome in Primary Immunodeficient Children

Journal of Clinical Periodontology, Volume 52, Issue 10, Page 1410-1418, October 2025.
ABSTRACT Background and Aim Primary Immunodeficiencies (PIDs) arise from rare genetic defects affecting humoral and cellular immunity, which can lead to reduced dental plaque control. This study aimed to characterise the subgingival dental plaque microbiome in neutropenic PID children compared to healthy controls and assess their response to non ...
Abish S. Stephen, Stacy Worrall, Cheryl Somani, Robert P. Allaker, Janet Davies, Luigi Nibali, Nikolaos Donos   +6 more
wiley   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma

Pigment Cell &Melanoma Research, Volume 38, Issue 5, September 2025.
Germline exome sequencing of 106 Finnish patients with UM, considered at higher risk for genetic cancer predisposition, identified pathogenic or likely pathogenic variants associated with varying risk of malignancies in 16 patients (15%). Six patients (6%) carried multiple variants and had a median diagnosis age of 51, compared to 60 in the full cohort
Pauliina E. Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz‐Tuikkanen, Reetta‐Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T. Al‐Jamal, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Conformational Flexibility of Proteins Involved in Ribosome Biogenesis: Investigations via Small Angle X-ray Scattering (SAXS)

Crystals, 2018
The dynamism of proteins is central to their function, and several proteins have been described as flexible, as consisting of multiple domains joined by flexible linkers, and even as intrinsically disordered.
Dritan Siliqi, James Foadi, Marco Mazzorana, Davide Altamura, Alfonso Méndez-Godoy, Nuria Sánchez-Puig   +5 more
doaj   +1 more source

Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes

Internal Medicine Journal, Volume 55, Issue 8, Page 1350-1359, August 2025.
Abstract Background The bone marrow failure syndromes (BMFS) are clinically heterogeneous conditions with both inherited and acquired etiologies. Optimal care is often challenged by the complexity of these disorders and gaps in healthcare delivery.
Lucy C. Fox, Erin Goode, Nicole Den Elzen, Lin Cheng, Laura Barth, Kelsey Man, Anna Jarmolowicz, Mary Panjari, Stephanie Best, Karin Thursky, Paul James, Ashish Bajel, David Ritchie, Piers Blombery   +13 more
wiley   +1 more source

Shwachman-Diamond syndrome

Терапевтический архив, 2014
Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its
L V Vinokurova, E A Dubtsova, N I Iashina, I S Shuliat'ev, Iu V Osipenko   +4 more
doaj  

Gene expression regulation by upstream open reading frames in rare diseases [PDF]

, 2017
Upstream open reading frames (uORFs) constitute a class of cis-acting elements that regulate translation initiation. Mutations or polymorphisms that alter, create or disrupt a uORF have been widely associated with several human disorders, including ...
Fernandes, Rafael, Romão, Luísa, Silva, Joana   +2 more
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