Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Mohammed AlMannai"'
Autor:
Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed
Externí odkaz:
https://doaj.org/article/9d9aa88a1b4445f2b0924b057a3dd0af
Autor:
Mohammed Almannai, Lama AlAbdi, Sateesh Maddirevula, Maha Alotaibi, Bader AlSaleem, Yaser Aljadhai, Hessa Alsaif, Mussad Abu Khalid, Fowzan Alkuraya
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100131- (2023)
Externí odkaz:
https://doaj.org/article/1705b1ce361e426d969aa71b980d3d0f
Autor:
Marwa ALMahroos, Mohammed AlMannai
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 1, Pp 17-19 (2022)
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Externí odkaz:
https://doaj.org/article/16f2cfe38b6e47aeaf0341ec4eb393a8
Autor:
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of ca
Externí odkaz:
https://doaj.org/article/02b629d14359496d9729b89471e20a09
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
WIPI (WD-repeat protein Interacting with PhosphoInositides) are important effectors in autophagy. These proteins bind phosphoinositides and recruit autophagy proteins. In mammals, there are four WIPI proteins: WIPI1, WIPI2, WIPI3 (WDR45B), and WIPI4
Externí odkaz:
https://doaj.org/article/01ed77a58aef4986a617b0f56f4f0588
Autor:
Majid Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair, Zuhair Rahbeeni, Eissa Faqeih, Mohammed Almannai, Ali Alasmari, Mohammed Saleh, Wafaa Eyaid, Ahmed Alfares, Fuad Al Mutairi
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural
Externí odkaz:
https://doaj.org/article/1a76d79b4d1d4643b0a6276b01de203b
Autor:
Muneer Almutairi, Mohammed Almannai
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 2, Pp 100-103 (2020)
Background: Opsismodysplasia (OPSMD) is an extremely rare and severe autosomal recessive skeletal dysplasia that is under the category of severe spondylodysplastic dysplasia. It is characterized by delayed bone maturation, and affected patients are i
Externí odkaz:
https://doaj.org/article/d2ff31207ba845dc80def8770618174e
Autor:
Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100835- (2022)
Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme involved in the initial steps of de novo pyrimidine synthesis. Uridine treatment ha
Externí odkaz:
https://doaj.org/article/81a39f65abc64bd79364b041fee9b177
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 22-27 (2020)
Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic a
Externí odkaz:
https://doaj.org/article/88ceaddebe454e689cd1547bdf013e7c
Autor:
Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
Abstract Objective Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled glutamat
Externí odkaz:
https://doaj.org/article/8027663439ce453b9d8a5847b2e2185f