Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

Autosomal dominant GH deficiency type II (IGHDII) is often associated with mutations in the human GH gene (GH1) that give rise to products lacking exon-3 ((Deltaexon3)hGH). In the heterozygous state, these act as dominant negative mutations that prevent the release of human pituitary GH (hGH). To de...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	McGuinness, L, Magoulas, C, Sesay, A, Mathers, K, Carmignac, D, Manneville, J, Christian, H, Phillips, J, Robinson, I
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2003

Antzeko izenburuak

A secreted fluorescent reporter targeted to pituitary growth hormone cells in transgenic mice.
nork: Magoulas, C, et al.
Argitaratua: (2000)

Increasing hub disruption parallels dementia severity in autosomal dominant Alzheimer’s disease
Argitaratua: (2024-10-01)

Autosomal Dominant Alternating Hemiplegia
nork: J Gordon Millichap
Argitaratua: (1993-01-01)

Autosomal Dominant Partial Epilepsies
nork: J Gordon Millichap
Argitaratua: (2000-07-01)

Autosomal Dominant Juvenile Amyotrophic LS
nork: J Gordon Millichap
Argitaratua: (1999-09-01)

Autosomal Dominant Partial Epilepsy with Auditory Features
nork: J Gordon Millichap
Argitaratua: (2009-01-01)

Docking of secretory vesicles is syntaxin dependent.
nork: Heidi de Wit, et al.
Argitaratua: (2006-12-01)

Epigenetic editing for autosomal dominant neurological disorders
nork: Jennifer J. Waldo, et al.
Argitaratua: (2024-03-01)

Zebrafish Models of Autosomal Dominant Ataxias
nork: Ana Quelle-Regaldie, et al.
Argitaratua: (2021-02-01)

Autosomal Dominant Polycystic Kidney Disease
nork: Schwenger Vedat, et al.
Argitaratua: (1999-01-01)

Autosomal-dominant osteopetrosis: An incidental finding
nork: Rajathi Maria, et al.
Argitaratua: (2010-01-01)

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
nork: Cansu de Muijnck, et al.
Argitaratua: (2024-10-01)

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
nork: Steckley, J, et al.
Argitaratua: (2001)

CRISPR/Cas therapeutic strategies for autosomal dominant disorders
nork: Salvatore Marco Caruso, et al.
Argitaratua: (2022-05-01)

Inhibition of lysosomal Ca2+ signalling disrupts dendritic spine structure and impairs wound healing in neurons
nork: Zahid Padamsey, et al.
Argitaratua: (2017-11-01)

Total and Extracellular Vesicle cAMP Contents in Urine Are Associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD) Progression
nork: María Lucía Rosenberg, et al.
Argitaratua: (2023-08-01)

Autosomal dominant polycystic kidney disease in Colombia
nork: Jessica T. Camargo, et al.
Argitaratua: (2023-07-01)

Autophagy and Autosomal Dominant Polycystic Kidney Disease
nork: Özgür Akın Oto, et al.
Argitaratua: (2023-01-01)

Familial Oral Pigmentation In An Autosomal Dominant Pattern
nork: Kanthraj G K, et al.
Argitaratua: (1997-01-01)

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome
nork: Stefania Tenna, et al.
Argitaratua: (2014-11-01)

Autosomal dominant polycystic kidney disease in children
nork: Kiran Chandra Patro, et al.
Argitaratua: (2016-01-01)

Hypertension in Autosomal Dominant Polycystic Kidney Disease
nork: Al-Khader Abdullah
Argitaratua: (1999-01-01)

Penetrance rate estimation in autosomal dominant conditions
nork: Paulo A. Otto, et al.
Argitaratua: (2012-01-01)

Pain in Autosomal Dominant Polycystic Kidney Disease
nork: Mariusz Niemczyk
Argitaratua: (2014-07-01)

Customization of hormone therapy in women with autosomal dominant polycystic kidney disease (ADPKD): actionable strategies and future perspectives
nork: Martina Catania, et al.
Argitaratua: (2024-04-01)

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland
nork: S. Cormican, et al.
Argitaratua: (2019-01-01)

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)
nork: J Gordon Millichap
Argitaratua: (2008-09-01)

Autosomal Dominant Epilepsy Syndrome Linked to 2p11
nork: J Gordon Millichap
Argitaratua: (2002-01-01)

Discovery and validation of autosomal dominant Alzheimer’s disease mutations
nork: Simon Hsu, et al.
Argitaratua: (2018-07-01)

Inhibition of lysosomal Ca2+ signalling disrupts dendritic spine structure and impairs wound healing in neurons
nork: Padamsey, Z, et al.
Argitaratua: (2017)

Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children
nork: L. Lucchetti, et al.
Argitaratua: (2023-03-01)

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
nork: George, A, et al.
Argitaratua: (1993)

PTH infusion for seizures in autosomal dominant hypocalcemia type 1
nork: Sastre, A, et al.
Argitaratua: (2021)

Caffeine intake by patients with autosomal dominant polycystic kidney disease
nork: L.C. Vendramini, et al.
Argitaratua: (2012-09-01)

Caffeine intake by patients with autosomal dominant polycystic kidney disease
nork: L.C. Vendramini, et al.
Argitaratua: (2012-09-01)

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.
nork: Abdalla, J, et al.
Argitaratua: (1992)

Secretory vesicles are preferentially targeted to areas of low molecular SNARE density.
nork: Lei Yang, et al.
Argitaratua: (2012-01-01)

Intracranial aneurysms in autosomal dominant polycystic kidney disease
nork: Jung Hyun Park
Argitaratua: (2024-12-01)

Echocardiographic characteristics of autosomal dominant polycystic kidney disease
nork: Agata Koska-Ścigała, et al.
Argitaratua: (2024-12-01)

Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
nork: I. Mouna Ben Amor, et al.
Argitaratua: (2011-01-01)