Results 41 to 50 of about 3,111 (197)
Roles of binding elements, FOXL2 domains, and interactions with cJUN and SMADs in regulation of FSHβ. [PDF]
, 2014 We previously identified FOXL2 as a critical component in FSHβ gene transcription. Here, we show that mice deficient in FOXL2 have lower levels of gonadotropin gene expression and fewer LH- and FSH-containing cells, but the same level of other pituitary ...
Barakat, Nermeen H +7 more
core +1 more source
Surgical strategy for congenital blepharophimosis syndrome
Chinese Medical Journal, 2007 So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.From 2003 to 2005, we adopted an one-stage technique combining blepharoptosis correction with medial canthoplasty in 16 patients with congenital ...
Wei-qing, Huang +4 more
openaire +2 more sources
A Case with Microphthalmia and Multiple Congenital Anomalies
Türk Oftalmoloji Dergisi, 2013 We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital ...
Ayça Sarı +2 more
doaj +1 more source
Indian Journal of Ophthalmology, 2016 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu +3 more
doaj +1 more source
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [PDF]
, 2006 Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall1 ...
Barlati S +17 more
core +1 more source
Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby
Developmental Dynamics, EarlyView.Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe +3 more
wiley +1 more source
Frontiers in Pediatrics, 2020 Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu +7 more
doaj +1 more source
Severe Megaloblastic Anaemia in an Infant [PDF]
, 2011 Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ +4 more
core +2 more sources
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, EarlyView.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
Regulation of reproduction via tight control of gonadotropin hormone levels. [PDF]
, 2018 Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH
Coss, Djurdjica
core +1 more source