Results 121 to 130 of about 6,322,056 (300)

ABC of Clinical Genetics. Clinical genetic services. [PDF]

BMJ, 1989
openaire   +2 more sources

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

FEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge, Vivian Pogenberg, Alexander Baumgart, Bente Siebels, Hartmut Schlüter, Michael Hecht‐Bucher, Aymelt Itzen   +6 more
wiley   +1 more source

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data. [PDF]

Hum Mutat, 2021
Scelsi HF, Barlow BM, Saccuzzo EG, Lieberman RL.   +3 more
europepmc   +1 more source

Clinical genetics of melanoma

Hereditary Cancer in Clinical Practice, 2012
Dębniak T
doaj   +1 more source

Pediatric critical illness endotypes reveal distinct outcomes and immune pathways shared across cause of illness

iScience
Summary: Characterization of shared patterns of immune responses in critical illnesses, known as “endotypes,” may have therapeutic significance. Using unsupervised k-means clustering of genome-wide gene expression profiling, we derived, validated, and ...
Michael J. Carter, Joshua Hageman, Yael Feinstein, Jethro Herberg, Dominic Habgood-Coote, Victoria Wright, Samuel Nichols, Nazima Pathan, Naomi Edmonds, Philip D. Cowie, Katie Burnham, Alexander Mentzer, Julian Knight, Michael Levin, Myrsini Kaforou, Simon Nadel, Mark J. Peters, Padmanabhan Ramnarayan   +17 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis. [PDF]

Ann Transl Med, 2021
Hu X, Guan J, Wang Y, Shi S, Song C, Li ZP, Feng ST, Chen J, Luo Y.   +8 more
europepmc   +1 more source

Developmental genetics

, 2010
This OER consists of an instructional sheet produced by GENIE CETL in the Department of Genetics. By the end of this material you would have learnt about: The way in which genes control the growth and development of an organism throughout its life ...
GENIE CETL
core  

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

, 2001
BACKGROUND: Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical
Malcolm, S, Super, M, Knight, S.J., White, S.M., Splitt, M, Flint, J, McKeown, C., Malcolm, S., de Vries, BB, Hurst, JA, Niermeijer, MF, Trainer, A, Quarrell, O.W., White, SM, Knight, Samantha, Super, M., Quarrell, O, de Vries, B B A, Winter, R, Trainer, AH, Winter, RM, Young, ID, Young, I, Regan, R, Trainer, A.H., Knight, SJ, Vries, L.B.A. de, Young, I.D., Flint, Jonathan, Niermeijer, Martinus, Flint, J., Winter, R.M., Niermeijer, M, Homfray, T, Hurst, J, Quarrell, OW, Vries, LBA, Homfray, T., Splitt, M., White, S, Hurst, J.A., Knight, SJL, Quarrell, OWJ, Knight, S, McKeown, C, Regan, R., Niermeijer, M.F.   +46 more
core   +1 more source

Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein

FEBS Letters, EarlyView.
Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux, Christian Lévêque, Fodil Azzaz, Marion Sangiardi, Sarosh R Irani, Michael Seagar, Jacques Fantini, Oussama El Far   +7 more
wiley   +1 more source