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Arcade dentaire - Informations médicales vérifiées

The Gain-of-Function Mutation,

16 Nov 2022

DOI: 10.3390/ijms232214168 PMID: 36430644

Rice spotted-leaf mutants are ideal materials to study the molecular mechanism underlying programmed cell death and disease resistance in plants....

Oryza Gain of Function Mutation Hydrogen Peroxide Plant Proteins Plant Immunity

Gain-of-function mutations in the catalytic domain of

02 06 2023

DOI: 10.1126/sciadv.adc9273 PMID: 37256945

Lung cancer is a lethal malignancy lacking effective therapies. Emerging evidence suggests that epigenetic enzyme mutations are closely related to the malignant phenotype of lung cancer. Here, we iden...

Humans Gain of Function Mutation Catalytic Domain Signal Transduction Cell Proliferation +2 autres

Gain-of-function STAT1 mutation and visceral leishmaniasis.

2022

DOI: 10.31744/einstein_journal/2022RC0048 PMID: 36102410

Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibil...

Candidiasis, Chronic Mucocutaneous Child Child, Preschool Gain of Function Mutation Humans +4 autres

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.

08 2023

DOI: 10.1007/s10875-023-01483-x PMID: 37140667

The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT signaling pathway a...

Humans Gain of Function Mutation Janus Kinases Signal Transduction Cytokines +1 autres

Somatic gain-of-function mutations in BUD13 promote oncogenesis by disrupting Fbw7 function.

02 Oct 2023

DOI: 10.1084/jem.20222056 PMID: 37382881

Somatic mutations occurring on key enzymes are extensively studied and targeted therapies are developed with clinical promises. However, context-dependent enzyme function through distinct substrates c...

Humans Gain of Function Mutation Carcinogenesis Cell Transformation, Neoplastic Mutation +2 autres

SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.

05 2023

DOI: 10.1111/epi.17444 PMID: 36287100

Loss-of-function variants in SCN1A cause Dravet syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-relat... Individuals carrying the recurrent SCN1A p.R1636Q variant were identified through diagnostic testing. Whole cell voltage-clamp electrophysiological recording in HEK-293 T cells was performed to compar... All four individuals had an early onset DEE characterized by focal tonic seizures and additional seizure types starting in the first few weeks of life. Electrophysiological analysis showed a mixed gai... The recurrent SCN1A p.R1636Q variant causes a clinical entity with a wider clinical spectrum than previously reported, characterized by neonatal onset epilepsy and absence of prominent movement disord...

Humans Infant, Newborn Epilepsies, Myoclonic Epilepsy Gain of Function Mutation +4 autres

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Oct 2022

DOI: 10.1038/s41588-022-01185-x PMID: 36195757

Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K...

Child Developmental Disabilities Gain of Function Mutation Humans Mutation +3 autres

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

02 2023

DOI: 10.1007/s10456-022-09846-5 PMID: 35902510

Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, ...

Humans Gain of Function Mutation Endothelial Cells Gap Junctions Mutation +2 autres

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the

2022

DOI: 10.3389/fimmu.2022.890073 PMID: 35799777

Activated phosphoinositide 3 kinase (PI3K) -delta syndrome (APDS) is an inborn error of immunity with variable clinical phenotype of immunodeficiency and immune dysregulation and caused by gain-of-fun... To explore unique B cell subsets and the pathomechanisms driving B cell dysregulation beyond the transitional B cell stage in APDS.... Clinical and immunological data was collected from 24 patients with APDS. In five cases, we performed an in-depth analysis of B cell phenotypes and cultured purified naïve B cells to evaluate their su... The patients had increased B cell sizes and higher proportions of IgM... The present study suggests additional mechanistic insight into B cell pathology of APDS: (1) decreased peripheral B cell numbers may be due to the increased death of naïve B cells; (2) larger B cell s...

Class I Phosphatidylinositol 3-Kinases Gain of Function Mutation Immunoglobulin M Mutation Phosphatidylinositol 3-Kinases

Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca

08 Sep 2022

DOI: 10.3390/ijms231810363 PMID: 36142275

Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissu...

Dynamin II Exocytosis Gain of Function Mutation Glucose Transport Proteins, Facilitative Humans +5 autres

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Contenu validé par Dr Olivier Menir

Auteurs principaux

Mohammed Nahidh

Birgit Marré

Angelika Rauch

Torsten Mundt

Wolfgang Hannak

Matthias Kern

Frank Nothdurft

Sinsa Hartmann

Klaus Böning

Julian Boldt

Helmut Stark

Daniel Edelhoff

Bernd Wöstmann

Stefan Wolfart

Florentine Jahn

Ralph Gunnar Luthardt

Toby Hughes

Eloá Cristina Passucci Ambrosio

Simone Soares

Lei Li

Sources (10000 au total)