Results 81 to 90 of about 1,281 (185)

Structural insights into Legionella RidL-Vps29 retromer subunit interaction reveal displacement of the regulator TBC1D5 [PDF]

, 2017
Legionella pneumophila can cause Legionnaires’ disease and replicates intracellularly in a distinct Legionella-containing vacuole (LCV). LCV formation is a complex process that involves a plethora of type IV-secreted effector proteins.
Bärlocher, K, Hilbi, H, Hohl, M, Hutter, CAJ, Letourneur, F, Seeger, MA, Steiner, B, Swart, AL, Welin, A   +8 more
core   +4 more sources

The enzymological characterization of the Inositol Phosphatase Synaptojanin

, 2010
Synaptojanin is unique in that it is the only mammalian inositol phosphatase to contain more than one catalytic domain; a CX5R Suppressor of Actin (Sac) domain and an Inositol Polyphosphate Phosphatase Catalytic (IPPc) domain.
Knott, Jessica Mary May, Knott, Jessica Mary May   +1 more
core   +1 more source

The Zebrafish equivalent of Alzheimer's disease-associated PRESENILIN Isoform PS2V regulates inflammatory and other responses to hypoxic stress [PDF]

, 2016
Dominant mutations in the PRESENILIN genes PSEN1 and PSEN2 cause familial Alzheimer's disease (fAD) that usually shows onset before 65 years of age. In contrast, genetic variation at the PSEN1 and PSEN2 loci does not appear to contribute to risk for the ...
Ebrahimie, E., Lardelli, M., Moussavi Nik, S., Newman, M., Van Der Hoek, M.   +4 more
core   +1 more source

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome [PDF]

, 2018
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome.
Ashraf, S, Bakkaloglu, SA, Baum, M, Benador, N, Bockenhauer, D, Bogdanovic, R, Braun, DA, Buscher, R, Cadnapaphornchai, MA, Chen, J, Chernin, G, Daga, A, Daouk, G, El Desoky, S, Ettenger, R, Fathy, H, Fehrenbach, H, Ferguson, MA, Gee, HY, Hashmi, S, Hermle, T, Hildebrandt, F, Hopcian, J, Ityel, H, Jobst-Schwan, T, Kari, JA, Kemper, M, Kohl, S, Kopp, JB, Lawson, JA, Lifton, RP, Lovric, S, Majmundar, AJ, Mane, S, Mueller, D, Munarriz, RL, Nakayama, M, Noyan, A, Ozaltin, F, Pabst, WL, Podracka, L, Rao, J, Rodig, NM, Sadowski, CE, Schapiro, D, Schmidt, JM, Schneider, R, Serdaroglu, E, Shril, S, Soliman, NA, Somers, MJG, Stajic, N, Stein, DR, Tan, W, Tasic, V, Traum, AZ, van der Ven, AT, Vivante, A, Warejko, JK, Widmeier, E, Zenker, M   +60 more
core  

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract [PDF]

, 2018
Purpose: To identify the genetic variation in two unrelated probands with congenital cataract and to perform functional analysis of the detected variants.
Baralle, Diana, Begum, Shahina, Dabir, Tabib, Emery-Billcliff, Peter, Lowe, Martin, Self, James, Shalaby, Ahmed K., Tabernero, Lydia, Waller, Sarah   +8 more
core   +2 more sources

Genetics and Eyecare [PDF]

Most, if not all, diseases have an underlying genetic contribution, therefore all clinicians, as health care providers, must have a basic understanding of genetics and competency to care and educate patients on their diseases, especially diseases with
Champion, Bobby, Diep, Vivian, Hua, Len, Picklyk, Cayla, Robillard, Collin, Slagle, Caroline   +5 more
core   +1 more source

A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient. [PDF]

Ann Dermatol, 2023
Lee JH, Lee J, Suh DH.
europepmc   +1 more source

Oculocerebrorenal Syndrome [PDF]

, 2020
openaire   +1 more source

Spatio-temporal control of neurotrophin trafficking and signalling in primary neurons cultured inside microfluidic chambers

, 2011
My PhD project was aimed at applying microfluidics technology to the study of longrange neurotrophin signalling. Neurotrophins are target-derived growth and survival factors that, among other functions, prevent innervating neurons from undergoing ...
Menendez, Guillermo, Menendez, Guillermo
core   +1 more source

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature. [PDF]

Am J Case Rep, 2023
Goodman CP, Park H, Mladenov GD, Raymond SL, Sundin A, Radulescu A, Khan FA.   +6 more
europepmc   +1 more source