Results 221 to 230 of about 70,338 (285)

Ttc21b is required for proper proliferation of neural progenitor cells.

Dis Model Mech
Niewoehner R, Paulding D, Leal JM, Rushforth R, Stottmann RW.   +4 more
europepmc   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 847-848, March 2026.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

Psychiatry and Clinical Neurosciences, Volume 80, Issue 3, Page 166-179, March 2026.
Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang, Kubra Trabzonlu, Emily Fullard Jones, Yasir Ahmed Syed   +3 more
wiley   +1 more source

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report. [PDF]

Am J Case Rep
Porowski M, Skarżyński H, Skarżyński PH.   +2 more
europepmc   +1 more source

Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]

, 2008
Brent, Robert L
core   +1 more source

NAD+ Homeostasis Attenuates Japanese Encephalitis Virus Infection Progression

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
JEV infection in brain tissue triggers inflammation and stress in neuronal cells, leading to NAD+ depletion via the overactivation of PARPs and SIRTs. While compensatory biosynthetic pathways (de novo and salvage) were upregulated, the NAD+ level fell critically. In vitro NAMPT inhibition exacerbates this deficit and viral load.
Takele Adugna Kassegn, Zhancheng Tian, Junzheng Du, Qingli Niu, Jifei Yang, Zhang Hongge, Yuqing Song, Fengxue Chai, Zhonghui Zhang, Guiquan Guan, Hong Yin   +10 more
wiley   +1 more source

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly. [PDF]

HGG Adv
Xu H, Liu Z, Hamdan FF, Wu S, He M, Wang D, Pan H, Hu J, Chen Y, Michaud JL, Minassian BA, Duan J, Liao J, Su J, Hu S, Peng Y, Ye Q, Chen L.   +17 more
europepmc   +1 more source

Monodentate Phosphine Modulation in Cyclometallated Platinum(II) Complexes for Antileishmanial, Antiviral, and Antitumor Applications

ChemMedChem, Volume 21, Issue 4, 25 February 2026.
Schematic representation depicting the influence of phosphine ligand identity on the biological and physicochemical characteristics of Pt(II) complexes: PTA promotes antileishmanial activity, PPh2(Php–COOH) strengthens antiviral activity, and TCEP enhances fluorescence.
Antonio A. de Oliveira‐Neto, Gustavo Clauss, Jennyfer Castro, Marcus S. A. Garcia, Natasha M. Cassani, Bruna C. Sandim, Ana Laura C. Oliveira, Stephanie P. B. Reyes, Nádija N. P. da Silva, Fillipe V. Rocha, Ana C. G. Jardim, Danilo C. Miguel, Camilla Abbehausen   +12 more
wiley   +1 more source

Notes from the Field: Congenital Rubella Syndrome - Florida, 2025. [PDF]

MMWR Morb Mortal Wkly Rep
Alak M, Taffanelli Latorre M, Foster PM, Armstrong J, Levent F, Chen MH, Doyle TJ.   +6 more
europepmc   +1 more source