A 24‐generation‐old founder mutation impairs splicing of <scp><i>RBBP8</i></scp> in Pakistani families affected with Jawad syndrome

Kaygusuz, Emrah; Khayyat, Arwa Ishaq A.; Abdullah, Uzma; Budde, Birgit; Asif, Maria; Ahmed, Ilyas; Makhdoom, Ehtisham Ul Haq; Sur-Erdem, İlknur; Baig, Jamshaid Mahmood; Khan, Muhammad Mohsin Ali; Toliat, Mohammad Reza; Becker, Christian; Anwar, Haseeb; Iqbal, Maria; Fischer, Sarah; Jameel, Muhammad; Sher, Muhammad; Tariq, Muhammad; Malik, Naveed Altaf; Noegel, Angelika A.; Hassan, Muhammad Jawad; Thiele, Holger; Tinschert, Sigrid; Eichinger, Ludwig M.; Höning, Stefan; Baig, Shahid Mahmood; Nürnberg, Peter; Hussain, Muhammad Sajid

doi:10.1111/cge.14028

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…Of these, Filippi syndrome (MIM: 272440 ), Chitayat syndrome (MIM: 617180 ), and Jawad syndrome (MIM: 251255 ) are conditions with identified genetic causes, whereas genetic underpinnings of Woods syndrome (MIM: 615236 ) are underexplored. 2 , 3 , 4 , 5…”

Section: Introductionmentioning

confidence: 99%

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Asif

Kaygusuz

Shinawi

et al. 2022

Human Genetics and Genomics Advances

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Section: Introductionmentioning

confidence: 99%

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Asif

Kaygusuz

Shinawi

et al. 2022

Human Genetics and Genomics Advances

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Casein Kinase 2 Affects Epilepsy by Regulating Ion Channels: A Potential Mechanism

Liu

Xia

Zhong

et al. 2024

CNSNDDT

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Epilepsy, characterized by recurrent seizures and abnormal brain discharges, is the third most common chronic disorder of the Central Nervous System (CNS). Although significant progress has been made in the research on antiepileptic drugs (AEDs), approximately one-third of patients with epilepsy are refractory to these drugs. Thus, research on the pathogenesis of epilepsy is ongoing to find more effective treatments. Many pathological mechanisms are involved in epilepsy, including neuronal apoptosis, mossy fiber sprouting, neuroinflammation, and dysfunction of neuronal ion channels, leading to abnormal neuronal excitatory networks in the brain. CK2 (Casein kinase 2), which plays a critical role in modulating neuronal excitability and synaptic transmission, has been shown to be associated with epilepsy. However, there is limited research on the mechanisms involved. Recent studies have suggested that CK2 is involved in regulating the function of neuronal ion channels by directly phosphorylating them or their binding partners. Therefore, in this review, we will summarize recent research advances regarding the potential role of CK2 regulating ion channels in epilepsy, aiming to provide more evidence for future studies.

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Impact of the “carbon trade—carbon tax” policy package on China’s macroeconomics and carbon emission reduction

Fei,

Jia

2024

Front. Environ. Sci.

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IntroductionBy constructing a computable general equilibrium model of "carbon trading" and "carbon trade-carbon tax", this study aims to deeply explore the combined impact of these two policies on China's economic development and carbon emission reduction, so as to provide scientific decision support for policy makers.MethodsIn order to accurately simulate the economic effects of carbon trading policies, the carbon trading module was introduced in detail in the "carbon trading" model, and the carbon trading cost was incorporated into the elastic substitution function production module. At the same time, in order to comprehensively evaluate the effect of the combination policy of "carbon trade-carbon tax", the cost of carbon tax is included in the constant elastic substitution function of production in the model.Results and DiscussionThrough in-depth data analysis and model calculation, it is found that although a single carbon trading policy can effectively promote the reduction of carbon emissions, its impact on the economy is relatively moderate, especially in promoting the technological upgrading of the power industry. The "carbon trade-carbon tax" combination policy has further strengthened the emission reduction action, in a number of industrial sectors, such as coal, power, heavy industry and light industry, by significantly increasing the cost of carbon emissions to promote emission reduction. The above results show that carbon tax policies play an important role in balancing carbon emission reduction and economic development. Compared with the single carbon trading policy, the introduction of carbon tax makes the emission reduction efforts of various departments more comprehensive, and also contributes to the stable development of the economy.

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A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

Cited by 3 publications

References 4 publications

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Casein Kinase 2 Affects Epilepsy by Regulating Ion Channels: A Potential Mechanism

Impact of the “carbon trade—carbon tax” policy package on China’s macroeconomics and carbon emission reduction

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