Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

Bibliographic Details
Main Authors:	Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Format:	Online
Language:	English
Published:	Wolters Kluwer 2016
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/

Similar Items

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
by: Marsh, Ashley P.L., et al.
Published: (2015)

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
by: McMillan, Hugh J, et al.
Published: (2012)

Developmental Roles of D-bifunctional Protein-A Zebrafish Model of Peroxisome Dysfunction
by: Kim, Yong-Il, et al.
Published: (2014)

Bifunctional catalysis
by: Dixon, Darren J
Published: (2016)

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
by: Smith, Katherine R, et al.
Published: (2011)

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
by: Scerri, Thomas, et al.
Published: (2015)

Using familial information for variant filtering in high-throughput sequencing studies
by: Bahlo, Melanie, et al.
Published: (2014)

Bifunctional crosslinking ligands for transthyretin
by: Mangione, P. Patrizia, et al.
Published: (2015)

Redirecting splicing with bifunctional oligonucleotides
by: Brosseau, Jean-Philippe, et al.
Published: (2014)

Peroxisome Synthesis in the Absence of Preexisting Peroxisomes
by: South, Sarah T., et al.
Published: (1999)

Getting to the heart of intracellular glucocorticoid regeneration: 11β-HSD1 in the myocardium
by: Gray, Gillian A, et al.
Published: (2016)

TNFα-mediated Hsd11b1 binding of NF-κB p65 is associated with suppression of 11β-HSD1 in muscle
by: Doig, Craig L, et al.
Published: (2014)

Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer
by: Kraft, Peter, et al.
Published: (2005)

Cupreines and cupreidines: an established class of bifunctional cinchona organocatalysts
by: Bryant, Laura A, et al.
Published: (2016)

Bifunctional Chelates Optimized for Molecular MRI
by: Wiener, Erik C., et al.
Published: (2014)

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
by: Sim, Joe C H, et al.
Published: (2014)

HSD452 - SEJARAH ANTARABANGSA 1919-1975 JUN 1994.
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1994)

HSD452 - SEJARAH ANTARABANGSA 1919-1975 APRIL 1994.
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1994)

HSD252 - KEBANGKITAN AMERIKA SYARIKAT OKT NOV 1993.
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1993)

HSD 452 - SEJARAH ANTARABANGSA 1919 - 1975 - MAC-APR 1992.
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1992)

hHSD452 - SEJARAH ANTARABANGSA 1919-1975 MAC APRIL 1989
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1989)

HSD 452 - SEJARAH ANTARABANGSA 1919-1975 APRIL 1993.pdf
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1993)

HSD 452 - SEJARAH ANTARABANGSA 1919-1975 JUN 1994.pdf
by: PPIK, Pusat Pengajian Ilmu Kemanusiaan
Published: (1994)

Glucocorticoids and 11β-HSD1 are major regulators of intramyocellular protein metabolism
by: Morgan, Stuart A, et al.
Published: (2016)

Yeast-based assays for screening 11β-HSD1 inhibitors
by: Vanella, Rosario, et al.
Published: (2016)

A bifunctional protein regulates mitochondrial protein synthesis
by: Richman, Tara R., et al.
Published: (2014)

Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6
by: Zaki, Paulette A, et al.
Published: (2006)

ESTSS and ISTSS: “heterozygous twins”
by: Gersons, Berthold P. R.
Published: (2013)

11β-Hydroxysteroid Dehydrogenase Type 1 (11β-HSD1) Inhibitors Still Improve Metabolic Phenotype in Male 11β-HSD1 Knockout Mice Suggesting Off-Target Mechanisms
by: Harno, Erika, et al.
Published: (2013)

PEX11 promotes peroxisome division independently of peroxisome metabolism
by: Li, Xiaoling, et al.
Published: (2002)

Bifunctional Iminophosphorane Organocatalysts for Enantioselective Synthesis: Application to the Ketimine Nitro-Mannich Reaction
by: Núñez, Marta G., et al.
Published: (2013)

Novel phosphonium salts and bifunctional organocatalysts in asymmetric synthesis
by: Moore, Graham
Published: (2013)

Design principles for bifunctional targeted oligonucleotide enhancers of splicing
by: Owen, Nicholas, et al.
Published: (2011)

Letter: Induction of tumours and bifunctional crosslinking metabolites of nitrosamines.
by: Schoental, R.
Published: (1976)

Stabilization of vasopressin-induced membrane events by bifunctional imidoesters
Published: (1981)

Thrombomodulin: A Bifunctional Modulator of Inflammation and Coagulation in Sepsis
by: Okamoto, Takayuki, et al.
Published: (2012)

Development of tartaric esters as bifunctional additives of methanol-gasoline
by: Zhang, Jie, et al.
Published: (2014)

Synthesis and evaluation of bifunctional sGC regulators
by: Chrominski, Mikolaj, et al.
Published: (2013)

The aminoindanol core as a key scaffold in bifunctional organocatalysts
by: G. Sonsona, Isaac, et al.
Published: (2016)

Nanoscale intimacy in bifunctional catalysts for selective conversion of hydrocarbons
by: Zečević, Jovana, et al.
Published: (2015)