Results 151 to 160 of about 46,344 (243)

Overexpression of Bmp4 induces microphthalmia by disrupting embryonic neural retina

open access: yesNeurobiology of Disease
Microphthalmia, mostly an autosomal dominant disorder, is a worldwide severe congenital ocular malformation that causes visual impairment. Our investigation unveiled a total of 30 genes associated with microphthalmia.
Baige Li   +7 more
doaj   +1 more source

Senp1 drives hypoxia-induced polycythemia via GATA1 and Bcl-xL in subjects with Monge's disease. [PDF]

open access: yes, 2016
In this study, because excessive polycythemia is a predominant trait in some high-altitude dwellers (chronic mountain sickness [CMS] or Monge's disease) but not others living at the same altitude in the Andes, we took advantage of this human experiment ...
Appenzeller, Otto   +9 more
core  

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi   +5 more
wiley   +1 more source

Neural crest induction in Xenopus: evidence for a two-signal model [PDF]

open access: yes, 1998
We have investigated the molecular interactions underlying neural crest formation in Xenopus. Using chordin overexpression to antagonize endogenous BMP signaling in whole embryos and explants, we demonstrate that such inhibition alone is insufficient to ...
Bronner-Fraser, Marianne   +1 more
core  

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

open access: yesClinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li   +5 more
wiley   +1 more source

Single Cell Analysis Reveals the Presence of Novel Intermediate Cells in Both Mice and Patients With Severe MASLD

open access: yesThe FASEB Journal, Volume 40, Issue 6, 31 March 2026.
Schematic overview of the experimental workflow combining single‐cell RNA sequencing and spatial proteomics in a murine model of MASLD. Tissues were isolated, dissociated, and processed for single‐cell transcriptomic profiling to identify distinct cellular clusters and define cell‐type–specific gene expression signatures. Computational analysis enabled
Marica Meroni   +18 more
wiley   +1 more source

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