Results 61 to 70 of about 4,716 (190)

Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]

, 2001
Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ, Campbell, LJ, Grace, C, Green, AR, Huntly, BJP, Nacheva, EP, Prince, HM, Reid, AG, Shepherd, P, Szer, J, Telford, N, Turner, P   +11 more
core   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

Lmx1b is required at multiple stages to build expansive serotonergic axon architectures

eLife, 2019
Formation of long-range axons occurs over multiple stages of morphological maturation. However, the intrinsic transcriptional mechanisms that temporally control different stages of axon projection development are unknown. Here, we addressed this question
Lauren J Donovan, William C Spencer, Meagan M Kitt, Brent A Eastman, Katherine J Lobur, Kexin Jiao, Jerry Silver, Evan S Deneris   +7 more
doaj   +1 more source

Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome. [PDF]

Ann Neurol
Objective Restless legs syndrome (RLS) is a neurological condition that causes uncomfortable sensations in the legs and an irresistible urge to move them, typically during periods of rest. The genetic basis and pathophysiology of RLS are incompletely understood.
Akçimen F, Chia R, Saez-Atienzar S, Ruffo P, Rasheed M, Ross JP, Liao C, Ray A, Dion PA, Scholz SW, Rouleau GA, Traynor BJ.   +11 more
europepmc   +2 more sources

Focal segmental glomerulosclerosis: Molecular genetics and targeted therapies [PDF]

, 2015
Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
Chen, Ying Maggie, Liapis, Helen
core   +2 more sources

Transcription Factor Lmx1b Negatively Regulates Osteoblast Differentiation and Bone Formation

International Journal of Molecular Sciences, 2022
The LIM-homeodomain transcription factor Lmx1b plays a key role in body pattern formation during development. Although Lmx1b is essential for the normal development of multiple tissues, its regulatory mechanism in bone cells remains unclear. Here, we demonstrated that Lmx1b negatively regulates bone morphogenic protein 2 (BMP2)-induced osteoblast ...
Kabsun Kim, Jung Ha Kim, Inyoung Kim, Semun Seong, Jeong Eun Han, Keun-Bae Lee, Jeong-Tae Koh, Nacksung Kim   +7 more
openaire   +2 more sources

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

MedComm, 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, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Foxa2 and Pet1 Direct and Indirect Synergy Drive Serotonergic Neuronal Differentiation

Frontiers in Neuroscience, 2022
Neuronal programming by forced expression of transcription factors (TFs) holds promise for clinical applications of regenerative medicine. However, the mechanisms by which TFs coordinate their activities on the genome and control distinct neuronal fates ...
Begüm Aydin, Michael Sierk, Mireia Moreno-Estelles, Mireia Moreno-Estelles, Link Tejavibulya, Nikathan Kumar, Nuria Flames, Shaun Mahony, Esteban O. Mazzoni   +8 more
doaj   +1 more source

The pyrogenic mediator prostaglandin E2 elicits warmth seeking via EP3 receptor‐expressing parabrachial neurons: a potential mechanism of chills

The Journal of Physiology, Volume 604, Issue 5, Page 2110-2130, 1 March 2026.
Abstract figure legend During infection, prostaglandin E2 (PGE2) is produced and elicits warmth‐seeking behaviour and involuntary febrile responses by acting on prostaglandin EP3 receptors (EP3Rs) in two distinct brain sites. PGE2 acting on EP3Rs on neurons in the external lateral part of the lateral parabrachial nucleus (LPBel) augments cold sensory ...
Takaki Yahiro, Yoshiko Nakamura, Kazuhiro Nakamura   +2 more
wiley   +1 more source

Spatiotemporal Characterization of Anterior Segment Mesenchyme Heterogeneity During Zebrafish Ocular Anterior Segment Development

Frontiers in Cell and Developmental Biology, 2020
Assembly of the ocular anterior segment (AS) is a critical event during development of the vertebrate visual system. Failure in this process leads to anterior segment dysgenesis (ASD), which is characterized by congenital blindness and predisposition to ...
Kristyn L. Van Der Meulen, Oliver Vöcking, Megan L. Weaver, Nishita N. Meshram, Jakub K. Famulski   +4 more
doaj   +1 more source