Results 111 to 120 of about 5,736 (234)

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Novel genetic cause of idiopathic short stature [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2017
Traditionally, the growth hormone – insulin-like growth factor I (GH – IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in
Min Jae Kang
doaj   +1 more source

Differential Gene Expression in Gonadotropin-Releasing Hormone Neurons of Male and Metestrous Female Mice. [PDF]

open access: yes, 2015
BACKGROUND: Gonadotropin-releasing hormone (GnRH) neurons play a pivotal role in regulation of the hypothalamic-pituitary gonadal axis in a sex-specific manner.
Auer, H.   +6 more
core   +1 more source

Electroluminescent Warm White Light‐Emitting Diodes Based on Passivation Enabled Bright Red Bandgap Emission Carbon Quantum Dots

open access: yesAdvanced Science, 2019
The development of efficient red bandgap emission carbon quantum dots (CQDs) for realizing high‐performance electroluminescent warm white light‐emitting diodes (warm‐WLEDs) represents a grand challenge.
Haoran Jia   +8 more
doaj   +1 more source

Activation of natriuretic peptides and the sympathetic nervous system following Roux-en-Y gastric bypass is associated with gonadal adipose tissues browning

open access: yesMolecular Metabolism, 2015
Objective: Roux-en-Y gastric bypass (RYGB) is an effective method of weight loss and remediation of type-2 diabetes; however, the mechanisms leading to these improvements are unclear.
Michael D. Neinast   +8 more
doaj   +1 more source

Transcriptional Changes in Cumulus Cells During In Vitro Maturation of Human Oocytes

open access: yesMolecular Reproduction and Development, Volume 92, Issue 6, June 2025.
ABSTRACT This study assessed transcriptional changes in human cumulus cells (CCs) during oocyte maturation In Vitro. CCs were collected from 25 cumulus‐oocyte complexes derived from surplus ovarian medulla tissue of eight women (mean age 29 years, range 19–36) undergoing ovarian tissue cryopreservation without ovarian stimulation.
Jesús Cadenas   +7 more
wiley   +1 more source

Mapping genomic regions and genes associated with the fat-tail, an adaptation trait in indigenous sheep [PDF]

open access: yes, 2019
Poster prepared for a share fair, Addis Ababa, May ...
Hanotte, Olivier H., Mwacharo, Joram M.
core  

Sterol transporters at membrane contact sites regulate TORC1 and TORC2 signaling. [PDF]

open access: yes, 2017
Membrane contact sites (MCSs) function to facilitate the formation of membrane domains composed of specialized lipids, proteins, and nucleic acids. In cells, membrane domains regulate membrane dynamics and biochemical and signaling pathways.
Murley, Andrew   +6 more
core   +1 more source

Transcriptional Profiling of SSEA‐1+ Endometrial Epithelial Progenitor Cells Highlights Their Role in Endometrial Regeneration, Remodeling, and Homeostasis

open access: yesThe FASEB Journal, Volume 39, Issue 9, 15 May 2025.
Sampling, isolation, cell sorting and microarray analysis of SSEA‐1+ endometrial epithelial progenitor cells. Gene expression data was analysed using computational pathway analysis methods and internally validated using real‐time quantitative PCR and externally validated using dual‐label immunofluorescence and endometrial epithelial organoid models ...
Hannan Al‐Lamee   +10 more
wiley   +1 more source

The phosphatase inhibitor LB-100 acts synergistically with the NPR2 agonist BMN-111 to improve bone growth

open access: yesbioRxiv, 2020
Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP (cGMP) in chondrocytes and severe short stature,
Leia C. Shuhaibar   +10 more
semanticscholar   +1 more source

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