Results 151 to 160 of about 26,400 (257)

A Pooled CRISPR Screen Reveals Genes Critical for Erythroblast Enucleation

American Journal of Hematology, EarlyView.
ABSTRACT Terminal erythroid differentiation involves dramatic cellular remodeling that culminates in the expulsion of the nucleus, a process known as enucleation. While enucleation is conserved across mammals and is crucial for the generation of fully functional erythrocytes, the mechanisms governing this process have remained largely unknown, in part ...
Marilou Tetard, Tianjian Lin, Nana A. Peterson, Rebekah C. Gullberg, Yann Le Guen, Jasmine Moshiri, John G. Doench, Elizabeth S. Egan   +7 more
wiley   +1 more source

Bioengineered cell therapies for pediatric solid tumors: unmet needs and a measurement-integrated approach. [PDF]

Prog Biomed Eng (Bristol)
Sandoval-Castellanos AM, Ahn YR, Canter RJ, Brown EG, Kim J.   +4 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function. [PDF]

EBioMedicine
Garloff V, Grimmel M, Maroofian R, Efthymiou S, Stengel S, Bello D, Tille C, Ghait M, Ohlenschläger O, Dieckmann A, de Vries H, Waginger M, Nadeef S, Barkhordari E, Kaiyrzhanov R, Bühler S, Pjeci I, Beck-Wödl S, Alvi JR, Sultan T, Chassevent A, Smith-Hicks C, Mishina I, Rodríguez-Palmero A, Wassmer E, Vogt J, Meudt CM, Jamra RA, Abbaszadegan MR, Ajami N, Azizimalamiri R, Galehdari H, Chamanrou N, Zamani M, Shariati G, Nourbakhsh P, Ali FB, Fatima A, Hashmi SN, Iqbal Z, Kaleem S, Toft M, Afzal E, Maqbool S, Rahman F, Salpietro V, Grisval M, Racine C, Januel L, Cheillan D, Acquaviva-Bourdain C, Al Alam C, Alfadhel M, Umair M, Oehl-Jaschkowitz B, Haider S, Jain V, Narang B, Amer F, Elkhateeb N, Alvarez C, Pérez-Palma E, Ríos-Pohl L, Møller RS, Baruah D, Lingappa L, Farooq A, Zaki MS, Svyatova G, Murtazalieva A, Burabayeva A, Salayev K, Guliyeva U, Kahrizi K, Najmabadi H, Revah-Politi A, Mulhern MS, Sands TT, Mustafa HM, Rao HA, Oprea G, Rad A, Miryounesi M, Mardi A, Gowda VK, Srinivasan VM, Alanazi RM, Abumansour IS, Alhaddad B, Bakur K, Bauer M, Alkuraya FS, Huppke P, Houlden H, Haack TB, Rubio I, Husain RA.   +96 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Children in South Asia deserve better: a call for a South Asian child rights Manifesto. [PDF]

BMJ Paediatr Open
Muhammad T, Seth R, Zafar N, Mehnaz A, Srivastava R, Raman S.   +5 more
europepmc   +1 more source

Artificial Intelligence and Access to Justice at the ‘Shop Front’: The Potential and Limitations of Meeting Legal Need Through Technology

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Australia, governments fund Community Legal Centres (CLCs) as part of the legal assistance sector (LAS) to meet the ‘legal needs’ of people experiencing disadvantage who cannot afford private legal services. Persistent unmet demand for CLCs is well‐documented. As artificial intelligence (AI) is increasingly used in private legal practice to
Catherine Hastings, Art Cotterell, Farzana Bruce   +2 more
wiley   +1 more source

Breakthrough Design of Highly Potent Antivirals Against Wild‐Type HIV‐1 and Lenacapavir‐Resistant M66I Variant

Angewandte Chemie, EarlyView.
Lenacapavir, the first‐in‐class drug targeting HIV‐1 capsid, is a breakthrough drug in HIV‐1 treatment and prophylaxis. However, a single M66I mutation confers complete viral resistance to lenacapavir. We report herein the design and synthesis of innovative R2 analogs demonstrating low nM potency against HIV‐1 M66I and excellent pharmacokinetics in ...
Nicolas Jamey, D. M. Nirosh Udayanga, Huanchun Zhang, Roshan Katekar, Wei Xie, Shreya M. Ravichandran, Xinyong Cai, Zachary C. Lorson, William M. McFadden, Won Hee Ryu, Jiashu Xie, Karen A. Kirby, Stefan G. Sarafianos, Zhengqiang Wang   +13 more
wiley   +2 more sources

Exploring interviews with adolescent victims of human trafficking: interviewer questions and adolescent reluctance. [PDF]

Psychiatr Psychol Law
Dykstra VW, Dianiska R, Lyon TD, Quas JA.   +3 more
europepmc   +1 more source