Results 181 to 190 of about 275,736 (271)

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

open access: yesClinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley   +6 more
wiley   +1 more source

High-resolution quantitative trait loci mapping and pyramiding effects of candidate genes for plant height in soybean. [PDF]

open access: yesPlant Genome
Sha D   +16 more
europepmc   +1 more source

Clinical‐Grade Human Induced Pluripotent Stem Cell‐Derived Neural Precursor Cells Restore Motor Function and Preserve Striatal Integrity in a Quinolinic Acid‐Lesioned Rat Model of Huntington's Disease

open access: yesCell Proliferation, EarlyView.
Clinical‐grade HLA‐homozygous iPSC‐derived neural precursor cells restore motor function, rebuild striatal circuitry and reduce neuroinflammation in QA‐lesioned rats. These findings demonstrate robust neuronal replacement and microenvironment modulation, supporting their potential as a regenerative therapy for Huntington's disease.
Hyeonjoong Jeon   +6 more
wiley   +1 more source

Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population‐Based Cohort

open access: yes
Allergy, EarlyView.
Yannick Chantran   +10 more
wiley   +1 more source

An international consensus on screening and monitoring early‐stage type 1 diabetes: A roadmap to European implementation

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Type 1 diabetes (T1D) is a chronic autoimmune disease that results in loss of insulin‐secreting pancreatic β‐cells in the islets of Langerhans. A diagnosis of T1D is typically associated with children and adolescents, yet half of all diagnoses of T1D are made in adults.
Sufyan Hussain   +16 more
wiley   +1 more source

Haplotype-resolved and near telomere-to-telomere assembly of the autotetraploid potato genome. [PDF]

open access: yesGenome Biol
Xiao PX   +8 more
europepmc   +1 more source

Teplizumab in Stage 2 Type 1 Diabetes: Clinical Practice Experience on Feasibility in 3 Adult Patients

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim To describe the first Italian experience with teplizumab administered under a compassionate use programme for adults with Stage 2 type 1 diabetes (T1D), and to evaluate its feasibility, safety and early metabolic outcomes in a real‐life clinical setting outside formal clinical trials.
V. Guarnotta   +6 more
wiley   +1 more source

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