Results 201 to 210 of about 714,661 (305)

A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report. [PDF]

Case Rep Ophthalmol
Sitto MM, Moin KA, Hoopes PC, Moshirfar M.   +3 more
europepmc   +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

CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia. [PDF]

Genes (Basel)
Nariman A, Nikoo MH, Sarrafzadegan N, Zibanejad MJ, Jervekani ZT, Daliri K, Tabatabaiefar MA.   +6 more
europepmc   +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

A missense mutation in acyl-CoA synthetase ACSL4 reveals essential residues for catalytic activity in ferroptosis. [PDF]

J Biol Chem
Sei H, Ando H, Nakashima F, Takahara T, Kita M, Yamada KI, Uchida K, Shibata T.   +7 more
europepmc   +1 more source

Fixation Induces Mislocalization of Thin Filament Components in Caenorhabditis elegans Striated Muscle

Cytoskeleton, EarlyView.
ABSTRACT The simple nematode Caenorhabditis elegans has long served as a powerful genetic model system for studying muscle structure and function, with sarcomeres of the striated body wall muscle (BWM) that are considered largely homologous to those in vertebrates.
Michael J. Kimmich, Pu Zhang, Bob Goldstein, David Pruyne   +3 more
wiley   +1 more source

Identification of a novel missense mutation (L233Q) in the AMH gene in a polycystic ovary syndrome patient from Assam, India. [PDF]

Prz Menopauzalny
Paul A, Ponnam SPG, Hazarika SG, Khanikar J.   +3 more
europepmc   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

Hyperactive KIF5A in Neurodegeneration

Cytoskeleton, EarlyView.
ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos, James N. Sleigh   +1 more
wiley   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source