Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system
Context: A subset of patients diagnosed with idiopathic hypogonadotropic hypogonadism
(IHH) later achieves activation of their hypothalamic-pituitary-gonadal axis with …
(IHH) later achieves activation of their hypothalamic-pituitary-gonadal axis with …
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani… - Nature …, 2017 - nature.com
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
[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 …
Role of Inn1 and its interactions with Hof1 and Cyk3 in promoting cleavage furrow and septum formation in S. cerevisiae
Cytokinesis requires coordination of actomyosin ring (AMR) contraction with rearrangements
of the plasma membrane and extracellular matrix. In Saccharomyces cerevisiae, new …
of the plasma membrane and extracellular matrix. In Saccharomyces cerevisiae, new …
Kisspeptin overcomes GnRH neuronal suppression secondary to hyperprolactinemia in humans
K Hoskova, N Kayton Bryant, ME Chen… - The Journal of …, 2022 - academic.oup.com
Context Hyperprolactinemia suppresses gonadotropin-releasing hormone (GnRH)-induced
luteinizing hormone (LH) pulses. The hypothalamic neuropeptide kisspeptin potently …
luteinizing hormone (LH) pulses. The hypothalamic neuropeptide kisspeptin potently …
Hypothalamic reproductive endocrine pulse generator activity independent of neurokinin B and dynorphin signaling
MF Lippincott, S León, YM Chan… - The Journal of …, 2019 - academic.oup.com
Abstract Context Kisspeptin–neurokinin B (NKB)–dynorphin neurons are critical regulators
of the hypothalamic–pituitary–gonadal axis. NKB and dynorphin are hypothesized to …
of the hypothalamic–pituitary–gonadal axis. NKB and dynorphin are hypothesized to …
Using kisspeptin to predict pubertal outcomes for youth with pubertal delay
YM Chan, MF Lippincott, P Sales Barroso… - The Journal of …, 2020 - academic.oup.com
Context The management of youth with delayed puberty is hampered by difficulty in
predicting who will eventually progress through puberty and who will fail to attain adult …
predicting who will eventually progress through puberty and who will fail to attain adult …
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
MR Richards, L Plummer, YM Chan… - Journal of medical …, 2017 - jmg.bmj.com
Background A constellation of neurodegenerative disorders exists (Gordon Holmes
syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from …
syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from …
Prevalence and phenotypic effects of copy number variants in isolated hypogonadotropic hypogonadism
Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not
been completely defined. Objective To determine the role of copy number variants (CNVs) in …
been completely defined. Objective To determine the role of copy number variants (CNVs) in …
Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease
New findings• What is the topic of this review? This review discusses the genetics of
idiopathic hypogonadotrophic hypogonadism, with a focus on how deficiencies in the …
idiopathic hypogonadotrophic hypogonadism, with a focus on how deficiencies in the …