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Journal Article

Immunoglobulin profiling identifies unique signatures in patients with Kawasaki disease during intravenous immunoglobulin treatment

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Tai-Ming Ko and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2671–2677, https://doi.org/10.1093/hmg/ddy176
Published: 16 May 2018
Journal Article

Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV

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Laura D Weinstock and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2725–2738, https://doi.org/10.1093/hmg/ddy182
Published: 16 May 2018
Journal Article

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

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Iris Barny and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2689–2702, https://doi.org/10.1093/hmg/ddy179
Published: 16 May 2018
Journal Article

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

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Muhammad Ansar and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2703–2711, https://doi.org/10.1093/hmg/ddy180
Published: 16 May 2018
Journal Article

Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration

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Mariann Kremlitzka and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2678–2688, https://doi.org/10.1093/hmg/ddy178
Published: 14 May 2018
Journal Article

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins

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Alessandra Torraco and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2739–2754, https://doi.org/10.1093/hmg/ddy183
Published: 14 May 2018
Journal Article

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes

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Hisashi Hasumi and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2712–2724, https://doi.org/10.1093/hmg/ddy181
Published: 14 May 2018
Journal Article

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

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Takashi Nonaka and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2658–2670, https://doi.org/10.1093/hmg/ddy174
Published: 10 May 2018
Journal Article

tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type

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Kristin E N Watt and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2628–2643, https://doi.org/10.1093/hmg/ddy172
Published: 10 May 2018
Journal Article

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells

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Emma M Perkins and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2614–2627, https://doi.org/10.1093/hmg/ddy169
Published: 08 May 2018
Journal Article

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures

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Jong-Won Lim and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2644–2657, https://doi.org/10.1093/hmg/ddy173
Published: 08 May 2018
Journal Article

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa

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Yu Zhou and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2563–2572, https://doi.org/10.1093/hmg/ddy165
Published: 02 May 2018
Journal Article

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

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Ning Liu and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2454–2465, https://doi.org/10.1093/hmg/ddy146
Published: 02 May 2018
Journal Article

Glial expression of disease-associated poly-glutamine proteins impairs the blood–brain barrier in Drosophila

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Po-An Yeh and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2546–2562, https://doi.org/10.1093/hmg/ddy160
Published: 02 May 2018
Journal Article

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

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Kyle Denton and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2517–2530, https://doi.org/10.1093/hmg/ddy156
Published: 02 May 2018
Journal Article

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase)

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Marie Helene Schernthaner-Reiter and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2604–2613, https://doi.org/10.1093/hmg/ddy166
Published: 02 May 2018
Journal Article

Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue

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Jessica Rodgers and others
Human Molecular Genetics, Volume 27, Issue 15, 01 August 2018, Pages 2589–2603, https://doi.org/10.1093/hmg/ddy150
Published: 30 April 2018
Journal Article

PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome

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Valentina Grande and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2477–2489, https://doi.org/10.1093/hmg/ddy152
Published: 28 April 2018
Journal Article

A mutation-led search for novel functional domains in MeCP2

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Jacky Guy and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2531–2545, https://doi.org/10.1093/hmg/ddy159
Published: 27 April 2018
Journal Article

Mutant APP and amyloid beta-induced defective autophagy, mitophagy, mitochondrial structural and functional changes and synaptic damage in hippocampal neurons from Alzheimer’s disease

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P Hemachandra Reddy and others
Human Molecular Genetics, Volume 27, Issue 14, 15 July 2018, Pages 2502–2516, https://doi.org/10.1093/hmg/ddy154
Published: 25 April 2018