Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mary Maj"'
Autor:
Christie Taylor, Mary Maj, Kevin Landau, Dong Li, Elizabeth Bhoj, Helga Toriello, Beverly Nelson, Sarah Gluschitz, Ruth Walker, Andrew Sobering
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100353- (2023)
Externí odkaz:
https://doaj.org/article/455e78edc1e948ec912e29ded49f5198
Autor:
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestati
Externí odkaz:
https://doaj.org/article/1cca6a990bb9497ba7aef86456f677fb
Autor:
Lucy A Clunes, Naia McMillan-Castanares, Neil Mehta, Afia Mesadieu, Jorge Rodriguez, Mary Maj, Mark T Clunes
Publikováno v:
SAGE Open Medicine, Vol 8 (2020)
Cystic fibrosis patients display multi-organ system dysfunction (e.g. pancreas, gastrointestinal tract, and lung) with pathogenesis linked to a failure of Cl − secretion from the epithelial surfaces of these organs. If unmanaged, organ dysfunction
Externí odkaz:
https://doaj.org/article/445c27a67cb9434f9695d9b11f7d069b
Autor:
Miles Douglas Thompson, Valeri Capra, Mark Clunes, G. Enrico Rovati, Mary Maj, Jana Stankova, David Duffy
Publikováno v:
Frontiers in Pharmacology, Vol 7 (2016)
Genetic studies have identified genetic variants associated with asthma pathogenesis and altered response to drug therapy. Many studies implicate polymorphisms in genes encoding the enzymes responsible for leukotriene synthesis and intracellular sign
Externí odkaz:
https://doaj.org/article/f6a1a1188bcd47e182c7039abadb20e2
Autor:
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Publikováno v:
Mol Genet Genomic Med
The cover image is based on the Clinical Report A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual by Mary Maj et al., https://doi.org/10.1002/mgg3.2064 Image Credit: Used with permis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3902e3b732593ec178c36c3cc3260dd4
https://doi.org/10.1002/mgg3.2137
https://doi.org/10.1002/mgg3.2137
Autor:
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Publikováno v:
Molecular Genetics & Genomic Medicine. 11
SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early onset park
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc178283b225476fdf982248c01fc306
https://doi.org/10.1002/mgg3.2064
https://doi.org/10.1002/mgg3.2064
Autor:
Tracey Weiler, Sherin Shaaban, Andrew Sobering, Shweta Dhar, Mary Maj, Cesar Larancuent, Amy Loret, Brady Slater
Publikováno v:
Genetics in Medicine. 24:S275-S276
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d83601c32cc12686f5a6960e3971c0a0
https://doi.org/10.1016/j.gim.2022.01.474
https://doi.org/10.1016/j.gim.2022.01.474
Autor:
Beth H. Garland, Mary Majumder, Constance M. Wiemann, Blanca Sanchez-Fournier, Jordyn Babla, Albert C. Hergenroeder
Publikováno v:
Health Care Transitions, Vol 2, Iss , Pp 100063- (2024)
Aims: Health care transition (HCT) to adult care and young adult disease self-management is a multi-step process involving three major stakeholders – the adolescent, the caregiver, and the provider. Preparation gaps exist within each of these stake
Externí odkaz:
https://doaj.org/article/8e33e8a9e99b4b99b0733f0c5f38d435
Autor:
Obed M. Ogega, Mary Majani, Cheryl Hendricks, Olumuyiwa Adegun, Maria Mbatudde, Charles Muyanja, Peter Atekyereza, Ngandeu N. Hugue, Razak M. Gyasi
Publikováno v:
Scientific African, Vol 20, Iss , Pp e01708- (2023)
Global and human development and freedoms increasingly thrive on robust and policy-orientated research and related activities. Yet, the African research landscape faces a myriad of challenges which have resulted in a very unequal continent in terms o
Externí odkaz:
https://doaj.org/article/9fa1bc19bfc8419d80b2df1e49d27838
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1298:241-249
Cyanide forms an inhibitory complex with the haem d-containing E. coli catalase HPII, spectrally similar to the cyanide complex of beef liver enzyme but with absorption bands shifted 90 nm towards the red end of the spectrum. Both the Kd and Ki value
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186a488d8b0d445e6b12f9a7e880400a
https://doi.org/10.1016/s0167-4838(96)00134-3
https://doi.org/10.1016/s0167-4838(96)00134-3