Results 101 to 110 of about 151,323 (257)
Humans are not unique: difficult birth is common in placental mammals
ABSTRACT Human childbirth is widely presumed to be uniquely difficult and dangerous compared to birth in other mammals. Tight fetopelvic proportions can result in obstructed labour and contribute to high rates of maternal and neonatal mortality. Ideas summarised under the ‘obstetrical dilemma’ have contributed to this assumption by explaining difficult
Nicole D. S. Grunstra
wiley +1 more source
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley +1 more source
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff +6 more
wiley +1 more source
A source of resistance against yellow mosaic disease in soybeans correlates with a novel mutation in a resistance gene. [PDF]
Rahman SU +11 more
europepmc +1 more source
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová +5 more
wiley +1 more source
Molecular insights into the responses of barley to yellow mosaic disease through transcriptome analysis. [PDF]
Zhang M +8 more
europepmc +1 more source
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source
Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis +8 more
wiley +1 more source
Beet Mosaic ‐ a Declining Disease in England
SUMMARY Surveys made by fieldmen of the British Sugar Corporation since 1946 showed that beet mosaic virus has declined in importance. Root crops in the Felsted and Spalding beet‐sugar factory districts have been most affected by the virus. Disease control in beet‐seed crops, well‐timed treatment of sugar‐beet root crops with systemic
openaire +1 more source

