Results 181 to 190 of about 108,171 (302)

A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China. [PDF]

Biol Sex Differ
Lei X, Zhou X, Cheng Z, Zhao S, Gui C, Ma Y, Shi M, Wei X, Xie B, Fan X, Chen S, Tao Q, Su Y, Yuan D, Gui B.   +14 more
europepmc   +1 more source

Founder effect [PDF]

, 2018
openaire   +2 more sources

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study. [PDF]

Cardiovasc Diabetol
González-Lleó AM, Brito-Casillas Y, Martín-Santana V, Gil-Quintana Y, Tugores A, Scicali R, Riaño M, Hernández-Baraza L, Jiménez-Monzón R, Girona J, Di Giacomo Barbagallo F, Masana L, Boronat M, Wägner AM, Sánchez-Hernández RM.   +14 more
europepmc   +1 more source

Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect. [PDF]

Neurol Genet, 2021
Leckie JN, Joel MM, Martens K, King A, King M, Korngut LW, de Koning APJ, Pfeffer G, Schellenberg KL.   +8 more
europepmc   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

Molecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce, Simone Bini, Marialuisa Sponziello, Giorgio Grani, Giulia Fiscon, Paola Paci, Lorenzo Farina, Rosa Falcone, Valentina Maggisano, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti   +11 more
wiley   +1 more source

Combined Evidence Reveals the Origin of a Rapid Range Expansion Despite Retained Genetic Diversity and a Weak Founder Effect. [PDF]

Mol Ecol
Bergman NM, Lehikoinen P, Kluen E, Bensch S, Lo Cascio Sætre C, Eroukhmanoff F, Fossøy F, Procházka P, Smith WJ, Stokke BG, Primmer CR, Thorogood R, Rönkä K.   +12 more
europepmc   +1 more source

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson's Disease: Geographical Distribution and Founder Effect. [PDF]

Genes (Basel), 2021
Yang GM, Wang RM, Xia N, Zheng ZW, Dong Y, Wu ZY.   +5 more
europepmc   +1 more source

TRAIL‐PEG‐Apt‐PLGA nanosystem as an aptamer‐targeted drug delivery system potential for triple‐negative breast cancer therapy using in vivo mouse model

Molecular Oncology, EarlyView.
Aptamers are used both therapeutically and as targeting agents in cancer treatment. We developed an aptamer‐targeted PLGA–TRAIL nanosystem that exhibited superior therapeutic efficacy in NOD/SCID breast cancer models. This nanosystem represents a novel biotechnological drug candidate for suppressing resistance development in breast cancer.
Gulen Melike Demirbolat, Aslihan Kucuk, Omer Erdogan, Samed Ozer, Bensu Kozan, Tugba Cuceli, Erkan Gumus, Evrim Cevik, Ozge Cevik   +8 more
wiley   +1 more source

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa. [PDF]

BMC Genomics
Chkioua L, El Fissi H, Amri Y, Sahli C, Bouzid F, Boudabous H, Tbib N, Ferchichi S, Massoud T, Alif N, Laradi S, Ben Abdennebi H.   +11 more
europepmc   +1 more source