Results 91 to 100 of about 7,368 (202)
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 +6 more
wiley +1 more source
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 +2 more
doaj +1 more source
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 +6 more
doaj +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 +10 more
wiley +1 more source
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 +13 more
wiley +1 more source
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 +5 more
doaj +1 more source
The TP53 tumor suppressor gene: From molecular biology to clinical investigations
Journal of Internal Medicine, Volume 298, Issue 2, Page 78-96, August 2025.Abstract Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it.
Panagiotis Baliakas, Thierry Soussi
wiley +1 more source
Bone marrow transplantation in Shwachman–Diamond syndrome [PDF]
Bone Marrow Transplantation, 2002 Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic dysfunction, metaphyseal dysostosis and bone marrow dysfunction with a predilection towards severe hematologic complications. Allogeneic bone marrow transplantation has been used as a therapeutic approach for SDS patients with serious hematologic ...
J W, Hsu +3 more
openaire +2 more sources
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 +2 more
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