Clinical management of congenital hypogonadotropic hypogonadism
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development
R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
B Cangiano, DS Swee, R Quinton, M Bonomi - Human Genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
D Liu, D Meyer, B Fennessy, C Feng, E Cheng… - Nature …, 2023 - nature.com
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …
[PDF][PDF] Burden testing of rare variants identified through exome sequencing via publicly available control data
The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
[PDF][PDF] Update on the genetics of idiopathic hypogonadotropic hypogonadism
AK Topaloğlu - Journal of clinical research in pediatric …, 2017 - jag.journalagent.com
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …
[HTML][HTML] Combining zebrafish and CRISPR/Cas9: toward a more efficient drug discovery pipeline
The use of zebrafish larvae in basic and applied research has grown exponentially during
the last 20 years. The reasons for this success lay in its specific experimental advantages …
the last 20 years. The reasons for this success lay in its specific experimental advantages …
Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7
CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
Facioscapulohumeral muscular dystrophy: the road to targeted therapies
MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …