Results 261 to 270 of about 261,136 (339)

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

In utero therapy for spinal muscular atrophy: closer to clinical translation. [PDF]

Brain
Tizzano EF, Lindner G, Chilcott E, Finkel RS, Yáñez-Muñoz RJ.   +4 more
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Eight decades of research on the long-term health effects of radiation in atomic bomb survivors and their offspring. [PDF]

Carcinogenesis
Kamiya K, Sakata R, Rajaraman P.
europepmc   +1 more source

Perspectives on Pertussis Prevention

Acta Paediatrica, EarlyView.
Ulrich Heininger
wiley   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

Clinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source

Prenatal Diagnosis of a Large Oropharyngeal Teratoma and Airway Management with EXIT: A Case Report. [PDF]

Turk Arch Otorhinolaryngol
Afifoğlu M, Demir AT, Eravcı FC.
europepmc   +1 more source

Neurodevelopment in preschool children exposed and unexposed to Zika virus in utero in Nicaragua: a prospective cohort study

Ryan Max, Christian Toval-Ruiz, Sylvia Becker-Dreps, Anna M Gajewski, Evelin Martinez, Kaitlyn Cross, Bryan Blette, Oscar Ortega, Damaris Collado, Omar Zepeda, Itziar Familiar, Michael J. Boivin, Meylin Chavarria, María José Meléndez, Juan Carlos Mercado, Aravinda de Silva, Matthew H Collins, Daniel Westreich, Sandra Bos, Eva Harris, Angel Balmaseda, Emily W. Gower, Natalie M Bowman, Elizabeth Stringer, Filemón Bucardo   +24 more
openalex   +1 more source

Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis

Cell Proliferation, EarlyView.
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang, Miao Yu, Hangbo Liu, Kai Sun, Chenxin Geng, Haochen Liu, Hailan Feng, Yang Liu, Hu Zhao, Dong Han   +9 more
wiley   +1 more source

A Case of Large Subchorionic Hematoma. [PDF]

Cureus
Lakhno I, Tkachov A, Korovai S.
europepmc   +1 more source