Results 141 to 150 of about 47,155 (269)

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Impact of Solid Fuel Use on Household Air Pollution and Respiratory Health in Two Low‑Income Communities in Mpumalanga, South Africa

Annals of Global Health
Introduction: Household air pollution from domestic solid fuel use remains a global public health concern, particularly in low‑income communities. This study assessed associations between household fuel use, indoor air pollution, and respiratory health ...
Bianca Wernecke, Kristy Langerman, Angela Mathee, Nada Abdelatif, Marcus A. Howard, Nkosana Jafta, Christiaan Pauw, Shumani Phaswana, Kareshma Asharam, Ishen Seocharan, Hendrik Smith, Rajen N. Naidoo, Natasha Naidoo, Caradee Y. Wright   +13 more
doaj   +1 more source

Engineered Stable, Antibiotic‐Free, High‐Level Protein Expression in the Probiotic Chassis Escherichia coli Nissle 1917

Biotechnology and Bioengineering, Volume 123, Issue 3, Page 776-784, March 2026.
The probiotic E. coli Nissle 1917 was engineered to enable stable and antibiotic free protein expression platforms using native plasmids. Further modification aids in the production of high‐level protein expression for antimicrobial secretion whose activity is comparable to industry standard E. coli BL21.
Halimatun Sakdiah Zainuddin, Sanjeeva Kumar Murali, Thomas J. Mansell   +2 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Virulence and diversity of Blumeria graminis f. sp. tritici populations in Henan Province, China

Phytopathology Research
Wheat powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt), is an important disease affecting wheat production in Henan Province, China. In this study, 915 isolates from 2011 to 2020 were obtained from 14 cities/counties, virulence assessment
Junmei Wang, Yahong Li, Fei Xu, Guoyan Zhang, Chaohong Feng, Gongqiang Yang, Yi Liu, Zihang Han, Lulu Liu, Lijuan Li, Jiaojiao Zhang, Ruijie Shi, Xinru Wan, Yuli Song   +13 more
doaj   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, Volume 109, Issue 3, Page 581-585, March 2026.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Personalized care of paediatric drug‐resistant epilepsy in Africa: A single‐centre pilot study utilizing mobile health and genetic testing

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 394-406, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70075 This original article is commented on by Mante on pages 307–308 of this issue. Abstract Aim To evaluate personalized care or precision medicine initiatives, including mobile health (mHealth) technology and genetic screening, in a South African paediatric epilepsy clinic ...
Ian S. Olivier, Karen Fieggen, Sandra Komarzynski, Elin H. Davies, Irene Muchada, Caitlin McIntosh, Alina Esterhuizen, Richard J. Burman, Jo M. Wilmshurst, and the University of Cape Town (UCT) Human Genetics Precision Medicine Epilepsy Group, Nicholas Loxton, Shrinav R Dawlatt, Akshay Vanmali   +12 more
wiley   +1 more source

Modulating the Optoelectronic Properties of Tripodal Fluorophores Through Fluorine‐Substituted Peripheral Phenyls

Chemistry – A European Journal, Volume 32, Issue 6, 9 February 2026.
C3‐symmetric D‐(π‐D‐π‐A)3 fluorophores featuring central triphenylamine donor, polarizable 2,5‐divinylthiophene linker, and a broad portfolio of fluorine‐based substituents show tunable (non)linear optical properties. ABSTRACT Fourteen novel tripodal fluorophores based on a central triphenylamine donor, electron‐rich, and polarizable divinylthiophene ...
Milan Klikar, Eva Prokopová, Lefteris Laleas, Giorgos Soultse, Alexandros Katsidas, Zdeňka Růžičková, Zuzana Burešová, Oldřich Pytela, Filip Bureš, Mihalis Fakis   +9 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 387-392, February 2026.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source