Results 111 to 120 of about 2,358 (194)

The crystal structure of mammalian inositol 1,3,4,5,6-pentakisphosphate 2-kinase reveals a new zinc-binding site and key features for protein function [PDF]

, 2017
Inositol 1,3,4,5,6-pentakisphosphate 2-kinases (IP5 2-Ks) comprise a family of enzymes in charge of synthesizing inositol hexakisphosphate (IP6) in eukaryotic cells.
Afonine, Alcázar-Roman, Angulo, Barker, Baños-Sanz, Berridge, Boularan, Brehm, Brehm, Byrum, Caddick, Chakraborty, Cheek, Cowtan, DeLano, Emsley, Evans, Finn, Franco-Echevarria, González, González, Gosein, Gosein, Gosein, Gouet, Gouy, Holm, Holmes, Irvine, Juanhuix, Kabsch, Laskowski, Li, Macbeth, McCoy, Murshudov, Onnebo, Ouyang, Panjikar, Phillippy, Phillippy, Qian, Saiardi, Scherer, Shears, Shears, Stephens, Sweetman, Terwilliger, Terwilliger, Vagin, Verbsky, Verbsky, Wang, Wang, Winn   +55 more
core   +1 more source

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

Balkan Journal of Medical Genetics
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner.
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A   +8 more
doaj   +1 more source

Genotype-phenotype associations in microtia: a systematic review

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +1 more source

Unveiling a cuproptosis-related risk model and the role of FARSB in hepatocellular carcinoma

Heliyon
Background: Cuproptosis, a type of regulated cell death that was recently identified, has been linked to the development of a variety of diseases, among them being cancers.
Junlin Duan, Xuan Zhang, Jingyu Xu, Jun Liu, Hetong Zhao   +4 more
doaj   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Baldini, A, Fuchs, JC, Linden, JF, Tucker, AS   +3 more
core  

TCOF1 Gene [PDF]

, 2020
openaire   +1 more source

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +1 more source

An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation [PDF]

, 2006
Baxter, E. Joanna, Campbell, Peter J., Culligan, Dominic A., Fourouclas, Nasios, Green, Anthony R., Huntly, Brian J. P., Li, Juan, Munro, Laura R., Roberts, Ian, Scott, Linda M., Swanton, Soheila, Vassiliou, George S.   +11 more
core  

TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer. [PDF]

Cell Commun Signal
Grzanka M, Popławski P, Wiśniewski JR, Iwanicka-Nowicka R, Kossowska H, Koblowska M, Rybicka B, Białas A, Piekiełko-Witkowska A.   +8 more
europepmc   +1 more source

FOSL1 promotes homologous recombination repair and camptothecin resistance via TCOF1-mediated ribosome biogenesis in non-small cell lung cancer. [PDF]

Transl Oncol
Hao C, Chen L, Liao F, Chen L, Yao Y, Song Q.   +5 more
europepmc   +1 more source