Results 151 to 160 of about 9,621,488 (249)

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant. [PDF]

J Cell Mol Med
Eslahi A, Kahaei MS, Shirvan BB, Alerasool M, Tabarestani S, Rezaie R, Hashemi N, Akhondian J, Arabi M, Ebrahimzadeh F, Toosi MB, Mojarrad M.   +11 more
europepmc   +1 more source

Identifying and characterising a plant GH1 β‐glucosidase that exhibits hydrolytic activity on N‐linked glucopyranoside

FEBS Open Bio, EarlyView.
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli, Carlotta Chiesa, Maher Abou Hachem, Ditte Hededam Welner   +3 more
wiley   +1 more source

Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk

, 2007
Kari Hemminki, Claus R. Bartram, Barbara Burwinkel, Bernd Frank, Peter Bugert, Alfons Meindl, Marion Kiechle-Bahat, Christian Sutter, Barbara Wappenschmidt, Justo Lorenzo Bermejo, Rita K. Schmutzler   +10 more
core   +1 more source

Genome Sequencing Readily Detects a Copy Number Variant in <i>FBN1</i> in a Patient with Marfan Syndrome. [PDF]

CJC Open
Jean F, Stuart A, Care4Rare Canada Consortium, Marcadier J, Bernier FP, Lamont RE.   +5 more
europepmc   +1 more source

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. [PDF]

Neurol Genet, 2023
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC.   +10 more
europepmc   +1 more source

Structural studies and functional engineering of NanX: an anhydro‐sialic acid transporter from Escherichia coli

FEBS Open Bio, EarlyView.
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty, Kelsi R. Hall, Zachary D. Tillett, Liam S. Turk, James S. Davies, Michael J. Currie, Hamish G. Brown, Sepideh Valimehr, Peter D. Mace, Andrew E. Whitten, Santosh Panjikar, Eric Hanssen, Rachel A. North, Renwick C.J. Dobson   +13 more
wiley   +1 more source

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant. [PDF]

Genes (Basel)
Pimenta LSE, Mello CB, Polanczyk GV, Kulikowski LD, Melaragno MI, Kim CA.   +5 more
europepmc   +1 more source

Adenosine triphosphate as a modulator of protein interactions and stability

FEBS Open Bio, EarlyView.
ATP is best known as the cell's energy currency, but it also shapes how proteins fold, interact, aggregate and form biomolecular condensates. This review explains the emerging physical principles behind these effects, including weak binding to charged protein regions, magnesium‐dependent behaviour and concentration‐dependent control of protein ...
Shuyuan Tan, Robin Curtis
wiley   +1 more source

Large-scale copy number variant analysis in genes linked to Parkinson´s disease. [PDF]

NPJ Parkinsons Dis
Landoulsi Z, Lohmann K, Vollstedt EJ, Wedgwood-Benn E, Niestroj LM, Laabs BH, Sendel S, Balck A, Borsche M, Lal D, Grünewald A, Brüggemann N, Franke A, Hicks A, Kasten M, Zeuner KE, Lange LM, Lieb W, Mollenhauer B, Pawlack H, Pramstaller PP, Caliebe A, König IR, May P, Klein C.   +24 more
europepmc   +1 more source

No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank. [PDF]

Transl Psychiatry, 2023
Boen R, Kaufmann T, Frei O, van der Meer D, Djurovic S, Andreassen OA, Selmer KK, Alnæs D, Sønderby IE.   +8 more
europepmc   +1 more source