Results 221 to 230 of about 467,173 (313)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Controlling Freeze-Thaw Gelation of Egg Yolk via Enzymatic Treatment. [PDF]

Gels
Hidas KI, Dalmadi I, Majzinger KL, Visy A, Varga-Tóth A, Németh C, Nyulas-Zeke IC.   +6 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Flexible Responses to Wildfires by Great Tits (<i>Parus major</i>) Breeding in Forests of Northeastern Algeria. [PDF]

Ecol Evol
Mennour H, Pagani-Núñez E, Bouzegag A, Bensouilah T.   +3 more
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Selective Nitrate Transmembrane Transport Through Adaptive Weak C─H Bonding Cyanostilbene Water Channels

Angewandte Chemie, EarlyView.
Here we demonstrate that weak HB CH donor cyanostilbenes promote water/ion transport through their ability to form less‐ordered transient water channels within the lipid bilayer with increased water permeability and NO3−/ Cl− selectivity. ABSTRACT Transmembrane water transport strongly depends on how dynamic, translocating water clusters are stabilized
Ioan Stroia, Dan‐Dan Su, Yuhao Li, Niculina Hadade, Ion Grosu, Arie van der Lee, Mihail Barboiu   +6 more
wiley   +2 more sources

Flaxseed Mucilage as a Functional Egg Replacer in the Preparation of Mayonnaise: Stability, Physicochemical, and Sensory Properties. [PDF]

J Food Sci
Yaver E, Güneş E, Adıyaman N.
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Dietary biological silage from tambaqui by products affect performance, physiology, and egg quality of young and old laying hens. [PDF]

Trop Anim Health Prod
Guimarães CC, Rufino JPF, Barai AA, de Almeida Santos AN, da Silva Gomes MF, Nóbrega TC, Ribeiro MWS, da Silva Castro PD, Mendes JM, de Lima Chaves FA, da Silva Junior JL, de Freitas Mendonça MA, de Jesus Beltrão Machado N, de Oliveira AT.   +13 more
europepmc   +1 more source