Results 161 to 170 of about 106,456 (270)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

TMO5 regulates PIN1 polarity convergence and organogenesis downstream of MONOPTEROS in the Arabidopsis shoot. [PDF]

Development
Kareem A, Ohno C, Heisler MG.
europepmc   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Patent Foramen Ovale-Induced Hypoxemia Unmasked During Pregnancy. [PDF]

JACC Case Rep
Regev A, Golob S, Varma B, Feinberg J, Small AJ, Argilla M, Saharan S, Owlia M, Roman A, Halpern DG.   +9 more
europepmc   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Harboring potential of enzymatic antioxidants in sweet potato [<i>Ipomoea batatas</i> (L.) Lam.] nodal cultures under <i>in vitro</i> NaCl-mediated salinity stress conditions. [PDF]

Front Plant Sci
Mishra A, Dasgupta M, Mohanty S, Tripathy P, Krishnappa HG, Singh S, Chauhan VBS, Arutselvan R, Sahoo BB, Sahoo MR.   +9 more
europepmc   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance. [PDF]

FASEB J
Bozon K, Cuny H, Sunn N, Martin EMMA, Sheng DZ, Chapman G, Dunwoodie SL.   +6 more
europepmc   +1 more source

A ‘Genome‐First’ Framework for Next‐Generation Bioinputs: From Functional Mining to Rational Synthetic Microbial Communities

Environmental Microbiology, Volume 28, Issue 5, May 2026.
I propose a ‘genome‐first’ framework to collapse the phenotypic bottleneck in bioinput discovery. By integrating multi‐layered genome mining and reverse ecology, this paradigm enables the rational design of stable synthetic microbial communities for a data‐driven and sustainable agricultural bioeconomy.
Osiel Silva Gonçalves
wiley   +1 more source

Overcoming Recalcitrance: A Review of Regeneration Methods and Challenges in Roses. [PDF]

Plants (Basel)
Nelson A, Ranney T, Liu W, Kelliher T, Duan H, Da K.   +5 more
europepmc   +1 more source