Results 141 to 150 of about 22,857 (208)

A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study describes the largest reported cohort of infants with ELAC2‐related mitochondrial cardiomyopathy, identifying a shared homozygous founder variant among consanguineous Kuwaiti families. The findings highlight the mutation's uniformly severe phenotype, emphasizing the need for early genetic screening and targeted counseling in high‐risk ...
Hind Alsharhan, Worood Alostad, Alshaymaa A. Ali, Mohammad A. Ebrahim, Hesham A. F. Mohammed, Ahmad Alahmad, Hashem Alhashemi, Walid M. Hassan, Ahmad E. M. S. Alhaj, Rasha M. Alsafi, Buthaina Albash   +10 more
wiley   +1 more source

Novel Reassortants of Oropouche Virus (OROV) Are Causing Maternal-Fetal Infection During Pregnancy, Stillbirth, Congenital Microcephaly and Malformation Syndromes. [PDF]

Genes (Basel)
Schwartz DA.
europepmc   +1 more source

The First Documented Case of Congenital Drug‐Resistant Tuberculosis in Indonesia: A Case Report

Respirology Case Reports, Volume 14, Issue 7, July 2026.
This case presents the first documented instance of congenital rifampicin‐resistant tuberculosis (RR‐TB) in Indonesia, where a 32‐week preterm neonate exhibited non‐specific respiratory and sepsis‐like symptoms. After clinical deterioration and the identification of maternal TB, the diagnosis of congenital RR‐TB was confirmed through various tests ...
Cynthia Centauri, Srisadono Fauzi Adiprabowo, Putri Maharani Tristanita Marsubrin, Irandi Putra Pratomo   +3 more
wiley   +1 more source

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. [PDF]

Neurol Genet, 2018
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.   +38 more
europepmc   +1 more source

Molecular Interplay of PARN and Telomerase: Tail Modifiers and Disease Implications

WIREs RNA, Volume 17, Issue 4, July/August 2026.
Schematic representation of the molecular interplay between PARN, telomerase‐associated, and the involvement of p53 in regulating telomere maintenance and genome stability. The top panel shows how normal PARN levels are involved in regulating p53 levels and balanced telomerase activity through their regulatory interaction with TERC and TERRA, thus ...
Sujitha Felicitus, Shalon Suzanne Pinto, Sai Samanvitha Madagundapalli Ramakrishna, Dechamma Pandyanada Nanjappa, Gunimala Chakraborty, Anirban Chakraborty   +5 more
wiley   +1 more source

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

Ital J Pediatr, 2019
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R.   +8 more
europepmc   +1 more source

Integrative Insights Into DYRK1A From Molecular Function to Therapeutic Advancement

Chemical Biology &Drug Design, Volume 108, Issue 1, July 2026.
At the center the 3D structure of DYRK1A has been displayed. The dual‐function of DYRK1A involved in cancer and neurodegeneration, i.e., its overexpression drives Down syndrome, neurodegenerative disease etc., and underexpression causes intellectual disability, seizures, etc.
Sampriti Paul, Sonal Dubey, Prashant Tiwari   +2 more
wiley   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 909-915, July 2026.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Understanding Human Cortical Expansion Using Pluripotent Stem Cell‐Derived Brain Organoids: Insights Into Progenitor Evolution and Diversity

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
The exceptional size of the human cerebral cortex reflects evolutionary changes in neural precursors (NPs), the cells that generate cortical neurons and glia. Pluripotent stem cell‐derived brain organoids now allow direct comparison of human, nonhuman primate, and rodent in the laboratory.
Wendy W. Y. Choi, Julien Muffat, Yun Li
wiley   +1 more source