Results 141 to 150 of about 3,006,865 (307)

Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China [PDF]

Cytochrome P450 17α-hydroxylase (P450c17) enzyme, encoded by the CYP17A1 gene, catalyzes 17a-hydroxylation and 17,20-lyase reactions essential for cortisol and sex steroid synthesis.
Yamei Li, Jianglin Zhang, Ting Han, Jie Gao, Yingxia Wang, Yinglan Wu   +5 more
core   +1 more source

Functional comparison of EncB and EncC cargo proteins in iron storage within the Myxococcus xanthus encapsulin

FEBS Letters, EarlyView.
Encapsulins are protein nanocompartments that play an important role in iron storage. In the Myxococcus xanthus encapsulin system, two cargo proteins called EncB and EncC contribute to iron mineralization. Here, we show that EncB and EncC generate iron‐containing minerals with distinct chemical compositions, suggesting that the composition of stored ...
Harry B. McDowell, Thomas Walther, Egbert Hoiczyk   +2 more
wiley   +1 more source

Puzzling cases of pediatric microcytosis

Pediatric Hematology Oncology Journal
Background: Iron deficiency anemia is a common diagnosis in the pediatric age group and often attributed to poor diet, excessive milk intake, or blood loss.
Alyssa Wilder, Nadia Cheek, Julie Voeller, Timothy C. Griffin, Latha Prasannan   +4 more
doaj   +1 more source

Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor. [PDF]

J Clin Invest, 2022
Godsel LM, Roth-Carter QR, Koetsier JL, Tsoi LC, Huffine AL, Broussard JA, Fitz GN, Lloyd SM, Kweon J, Burks HE, Hegazy M, Amagai S, Harms PW, Xing X, Kirma J, Johnson JL, Urciuoli G, Doglio LT, Swindell WR, Awatramani R, Sprecher E, Bao X, Cohen-Barak E, Missero C, Gudjonsson JE, Green KJ.   +25 more
europepmc   +1 more source

Structural and biochemical analysis of a B12 superbinder

FEBS Letters, EarlyView.
BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices, Jacob J. Whittaker, Dirk J. Slotboom, Albert Guskov   +3 more
wiley   +1 more source

APP Genetic Deficiency Alters Intracellular Ca²⁺ Homeostasis and Delays Axonal Degeneration in Dorsal Root Ganglion Sensory Neurons. [PDF]

J Neurosci, 2022
de León A, Gibon J, Barker PA.
europepmc   +1 more source

GENETIC SPECTRUM OF PRIMARY DYSLIPIDEMIAS IN CHILDREN - SINGLE CENTER EXPERIENCE

Primary dyslipidemias are heterogenous metabolic disorders caused by pathogenic genetic variants. Over 100 genes have been identified that impact lipid metabolism, with familial hypercholesterolemia being the most common form, occurring in the general ...
Sarajlija, Adrijan, Gašić, Vladimir, Alimpić, Biljana, Pavlović, Sonja, Ilić, Nikola, Krasić, Staša, Đorović, Nevena, Vukomanović, Vladislav, Krstić, Jovana   +8 more
core  

Modelling human immune deficiency from novel missense mutations with orthologous heterozygous mutations engineered in mice by CRISPR/Cas9

, 2023
Introduction/Background: Next generation sequencing has resulted in substantial progress in identification of Mendelian immune deficiency syndromes. In some cases, however, putative causal mutations occur in single kindreds, or even individual patients ...
Garcia De Vinuesa, Maria Carola, Chand, Rochna, Miraghazadeh, Bahar, Davies, Ainsley, Burgio, Gaetan, Cardinez, Chelisa, da Silva, Elizabeth, Cook, Matthew   +7 more
core  

Structures of mycobacterial 3‐methylcrotonyl‐CoA carboxylase reveal carrier‐domain translocation between catalytic sites

FEBS Letters, EarlyView.
Mycobacterial 3‐methylcrotonyl‐CoA carboxylase uses a mobile biotin‐carrying domain to shuttle a carboxyl group between two catalytic sites, enabling carboxylation of 3‐methylcrotonyl‐CoA during leucine breakdown. Cryo‐electron microscopy captures the carrier at both sites and reveals an inward loop movement that may prevent futile rebinding to the ...
Ajit Yadav, Bogdan I. Florea, Sebastian Geibel   +2 more
wiley   +1 more source

Fecal microbiota transplantation ameliorates atherosclerosis in mice with C1q/TNF-related protein 9 genetic deficiency. [PDF]

Exp Mol Med, 2022
Kim ES, Yoon BH, Lee SM, Choi M, Kim EH, Lee BW, Kim SY, Pack CG, Sung YH, Baek IJ, Jung CH, Kim TB, Jeong JY, Ha CH.   +13 more
europepmc   +1 more source