Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2019.0114
Abstract: Importance Myofibroma is the most frequent fibrous tumor in children. Multicentric myofibroma (referred to as infantile myofibromatosis) is a life-threatening disease. Objective To determine the frequency, spectrum, and clinical implications of mutations in the PDGFRB… read more here.
Keywords: myofibromatosis; pdgfrb mutations; gain function; myofibroma myofibromatosis ... See more keywords
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.395
Abstract: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth… read more here.
Keywords: pmp22; deletion causes; gain function; exon deletion ... See more keywords
Time to Get Turned on by Chemical Biology
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DOI: 10.1002/cbic.202000497
Abstract: The pressing need for innovation in drug discovery is spurring the emergence of drugs that turn on protein function, as opposed to shutting activity down. Several pharmacophores usher protein target gain‐of‐function, for instance: PROTACs promote… read more here.
Keywords: chemical biology; target; time get; biology ... See more keywords
C‐Terminal, but Not Intact, FGF23 and EPO Are Strongly Correlatively Elevated in Patients With Gain‐of‐Function Mutations in HIF2A: Clinical Evidence for EPO Regulating FGF23
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4195
Abstract: Fibroblast growth factor 23 (FGF23) is a key phosphate‐ and vitamin D‐regulating hormone. FGF23 circulates as an intact 251 amino acid protein or N‐ and C‐terminal degradation products. Hormone activity resides in the intact molecule,… read more here.
Keywords: fgf23; function mutations; intact fgf23; physiology ... See more keywords
A gain‐of‐function mutation in the ITPR1 gating domain causes male infertility in mice
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30783
Abstract: Inositol 1,4,5‐trisphosphate receptor 1 (ITPR1) is an intracellular Ca2+ release channel critical for numerous cellular processes. Despite its ubiquitous physiological significance, ITPR1 mutations have thus far been linked to primarily movement disorders. Surprisingly, most disease‐associated… read more here.
Keywords: function; gain function; gating domain; itpr1 gating ... See more keywords
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8545-5
Abstract: We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, and… read more here.
Keywords: spinocerebellar ataxia; ca2 signal; function; itpr1 ... See more keywords
JAK 1/2 Blockade in MDA5 Gain-of-Function
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0563-2
Abstract: To the Editor, Mendelian type I interferonopathies are an increasingly recognized cause of treatment-refractory multisystem inflammation [1]. Here we report the beneficial effect of the JAK 1/2 inhibitor ruxolitinib in an infant with progressive neurological… read more here.
Keywords: jak blockade; age; mda5 gain; blockade mda5 ... See more keywords
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.05.016
Abstract: KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands… read more here.
Keywords: intellectual disability; loss function; function gain; function ... See more keywords
Gain-of-Function Mutation in Ryanodine Receptor Type 1 Modulates Murine Thymocyte Calcium Signaling and Autoimmune Response in Mice
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DOI: 10.1016/j.bpj.2016.11.559
Abstract: Gain-of-function mutations in gene encoding ryanodine receptor type 1 (RyR1), an endo/sarcoplasmic reticulum Ca2+ release channel, are linked to a variety of skeletal muscular disorders. Other tissues, including cells of the immune system, have been… read more here.
Keywords: r163c mice; mutation; gain function; mice ... See more keywords
Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
Sign Up to like & getrecommendations! Published in 2019 at "Cell reports"
DOI: 10.1016/j.celrep.2018.12.100
Abstract: DNA variants in the SLC16A11 coding region were identified to be strongly associated with type 2 diabetes (T2DM) in a Mexican population. Previous studies suggested that these variants disrupt SLC16A11 function and therefore proposed to… read more here.
Keywords: function mutations; mutations slc16a11; type diabetes; type ... See more keywords
Rocaglates Induce Gain-of-Function Alterations to eIF4A and eIF4F
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.02.002
Abstract: SUMMARY Rocaglates are a diverse family of biologically active molecules that have gained tremendous interest in recent years due to their promising activities in pre-clinical cancer studies. As a result, this family of compounds has… read more here.
Keywords: rocaglates induce; eif4a eif4f; gain function; function alterations ... See more keywords