Browsing Centre for Endocrinology by Author "Cabrera, CP"
Now showing items 1-14 of 14
-
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty.
Howard, SR; Guasti, L; Poliandri, A; David, A; Cabrera, CP; Barnes, MR; Wehkalampi, K; O'Rahilly, S; Aiken, CE; Coll, AP (2018-02-01)Context: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of ... -
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
Zhou, J; Boulkroun, S; Cabrera, CP; Azizan, EAB; Fernandes-Rosa, F; Cottrell, E; Argentesi, G; Wu, X; O’Toole, S; Marker, A (Oxford University Press, 2021-05-03) -
Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty
Saengkaew, T; Mancini, A; Ruiz-Babot, G; Cabrera, CP; Barnes, MR; Dunkel, L; Guasti, L; Howard, S (Oxford University Press, 2021-05-03) -
DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY
Howard, SR; Andre, V; Guasti, L; Cabrera, CP; Barnes, MR; Cariboni, A; Dunkel, L (2017)Meeting abstract FC109 from International Meeting of Pediatric Endocrinology 2017 -
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
Howard, SR; Oleari, R; Poliandri, A; Chantzara, V; Fantin, A; Ruiz-Babot, G; Metherell, LA; Cabrera, CP; Barnes, MR; Wehkalampi, K (2018-09-01)Context: Self-limited delayed puberty (DP) segregates in an autosomal-dominant pattern, but the genetic basis is largely unknown. Although DP is sometimes seen in relatives of patients with hypogonadotropic hypogonadism ... -
<i>EAP1</i> Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty
Mancini, A; Howard, SR; Cabrera, CP; Barnes, MR; Heger, S; Guasti, L; Ojeda, S; Dunkel, L (2018) -
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty
Howard, SR; Guasti, L; Ruiz-Babot, G; Mancini, A; David, A; Storr, H; Metherell, LA; Sternberg, MJE; Cabrera, CP; Warren, HR (2016-06) -
LGR 4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty
Mancini, A; Howard, SR; Cabrera, CP; Barnes, MR; David, A; Wehkalampi, K; Vassart, G; Cariboni, A; Garcia, MI; Guasti, L (2019) -
LGR4 deficiency results in delayed puberty through impaired Wnt/beta-catenin signaling
Mancini, A; Howard, SR; Marelli, F; Cabrera, CP; Barnes, MR; Sternberg, MJE; Leprovots, M; Hadjidemetriou, I; Monti, E; David, A (2020-06-04) -
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; Dunkel, L; Deeb, A; Al Basiri, I (2020-12) -
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
Zhou, J; Cabrera, CP; Azizan, EAB; Fernandes-Rosa, F; Cottrell, E; Amar, L; Argentesi, G; Wu, X; Marker, A; Jordan, S (2020-05-08)Abstract SAT-224 from ENDO 2020 Abstracts Scheduled for the Annual Meeting of the Endocrine Society – March 28 – 31, 2020 - San Francisco, California (Cancelled). Background: Three patients with a syndrome of LH/HCG-activated ... -
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
Azizan, EAB; Zhou, J; Cabrera, CP; Fernandes-Rosa, FL; Boulkroun, S; Argentesi, G; Cottrell, E; Amar, L; Wu, X; Marker, A (2021-05-03) -
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou, J; Azizan, EAB; Cabrera, CP; Fernandes-Rosa, FL; Boulkroun, S; Argentesi, G; Cottrell, E; Amar, L; Wu, X; O'Toole, S (Nature Research, 2021-08-12)Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell clusters of normal adrenal gland suggests a requirement ... -
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty
Saengkaew, T; Ruiz-Babot, G; David, A; Mancini, A; Mariniello, K; Cabrera, CP; Barnes, MR; Dunkel, L; Guasti, L; Howard, SR (2021)