Results 91 to 100 of about 61,899 (269)

Sonic hedgehog signaling during adrenal development [PDF]

open access: yesMolecular and Cellular Endocrinology, 2012
It has been speculated for a number of years that Sonic hedgehog (Shh) signaling plays an important role in adrenal development. Over the past two years several reports have described the expression and function of Shh pathway genes in the adrenal cortex, using primarily mouse models.
Laufer, Ed   +3 more
openaire   +2 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. [PDF]

open access: yes, 2020
PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types ...
Ahituv, Nadav   +19 more
core  

Joint interpretation of AER/FGF and ZPA/SHH over time and space underlies hairy2 expression in the chick limb [PDF]

open access: yes, 2012
Embryo development requires precise orchestration of cell proliferation and differentiation in both time and space. A molecular clock operating through gene expression oscillations was first described in the presomitic mesoderm (PSM) underlying periodic ...
Andrade, Raquel P.   +2 more
core   +3 more sources

Sonic Hedgehog, Apoptosis, and the Penis [PDF]

open access: yesThe Journal of Sexual Medicine, 2009
ABSTRACT Introduction Smooth muscle apoptosis in the penis is common in prostatectomy patients and animal models of erectile dysfunction (ED). A critical regulator of smooth muscle apoptosis in the penis is the secreted protein Sonic hedgehog (SHH).
openaire   +2 more sources

Sonic hedgehog patterning during cerebellar development [PDF]

open access: yesCellular and Molecular Life Sciences, 2015
The morphogenic factor sonic hedgehog (Shh) actively orchestrates many aspects of cerebellar development and maturation. During embryogenesis, Shh signaling is active in the ventricular germinal zone (VZ) and represents an essential signal for proliferation of VZ-derived progenitors.
DE LUCA, Annarita   +5 more
openaire   +3 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Arsenic trioxide prevents osteosarcoma growth by inhibition of GLI transcription via DNA damage accumulation. [PDF]

open access: yesPLoS ONE, 2013
The Hedgehog pathway is activated in various types of malignancies. We previously reported that inhibition of SMO or GLI prevents osteosarcoma growth in vitro and in vivo.
Shunsuke Nakamura   +8 more
doaj   +1 more source

Targeting self-renewal pathways in myeloid malignancies [PDF]

open access: yes, 2013
A fundamental property of hematopoietic stem cells (HSCs) is the ability to self-renew. This is a complex process involving multiple signal transduction cascades which control the fine balance between self-renewal and differentiation through ...
Copland, M., Sands, W.A., Wheadon, H.
core   +2 more sources

Astrocytic Mitochondria Transplantation Rescues Neuron Loss and Dendritic Injuries in Acute Cerebral Ischemic Stroke Mouse Model by Flexibly Regulating Mitochondria Dynamics

open access: yesAnnals of Neurology, EarlyView.
Objective Cerebral ischemic stroke causes neuronal oxygen/energy deprivation, disrupting mitochondrial function including reduced membrane potential and bioenergetics, exacerbating neuronal injury. Mitochondrial defects are, therefore, a central neuropathological node and potential therapeutic target.
Ning Bian   +9 more
wiley   +1 more source

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