Desheng Liang Selected Research

X-Linked Chondrodysplasia Punctata 1

1/2021

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.

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Desheng Liang Research Topics

Disease

5	Hemophilia A (Haemophilia) 01/2022 - 03/2016
5	Neoplasms (Cancer) 01/2022 - 12/2004
4	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2022 - 02/2018
3	Aneuploidy (Aneuploid) 01/2019 - 10/2008
2	Methylmalonic acidemia 01/2021 - 12/2020
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2021 - 12/2008
2	Melanoma (Melanoma, Malignant) 01/2020 - 06/2017
2	Chromosome Aberrations (Chromosome Abnormalities) 01/2019 - 12/2017
2	Atherosclerosis 08/2012 - 06/2011
1	Epilepsy (Aura) 06/2022
1	Bacterial Infections (Bacterial Infection) 06/2022
1	Bruton type agammaglobulinemia 06/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 04/2022
1	Propionic Acidemia 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022
1	X-Linked Chondrodysplasia Punctata 1 01/2021
1	Hemorrhage 01/2021
1	Hydrocephalus (Hydrocephaly) 12/2020
1	Perinatal Death 10/2020
1	Chromothripsis 08/2020
1	Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II) 08/2020
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 07/2020
1	Giant Axonal Neuropathy 03/2020
1	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses) 05/2019
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2019
1	Hemophilia B (Haemophilia B) 10/2018
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 10/2018
1	Thoracic Aortic Aneurysm 09/2018
1	Idiopathic Hypogonadotropic Hypogonadism 08/2018
1	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 07/2018
1	Neurodegenerative Diseases (Neurodegenerative Disease) 02/2018
1	Neurodevelopmental Disorders 01/2018
1	Cataract (Cataracts) 01/2018
1	Anhidrotic Ectodermal Dysplasia 1 12/2017
1	Autism Spectrum Disorder 04/2016
1	Xanthomatosis (Xanthoma) 09/2015
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 09/2015
1	Hypophosphatemic Rickets 07/2015
1	Norrie disease 05/2015
1	Trisomy (Trisomies) 01/2015
1	Hepatolenticular Degeneration (Wilson's Disease) 01/2015
1	Craniofacial Dysostosis (Crouzon Disease) 06/2014
1	Lymphoma (Lymphomas) 06/2011
1	Nasopharyngeal Carcinoma 12/2004
1	Herpes Simplex 12/2004

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 05/2015
5	Ribosomal DNA (rDNA)IBA 01/2021 - 03/2016
3	Factor VIII (Coagulation Factor VIII)IBA 01/2022 - 01/2020
3	DNA (Deoxyribonucleic Acid)IBA 08/2020 - 05/2013
3	oxidized low density lipoproteinIBA 09/2015 - 06/2011
2	DystrophinIBA 01/2021 - 12/2008
2	dichlorobis(azomycin)platinum IIIBA 01/2021 - 01/2015
1	Methylmalonic AcidIBA 06/2022
1	Agammaglobulinaemia Tyrosine KinaseIBA 06/2022
1	Immunoglobulins (Immunoglobulin)IBA 06/2022
1	Nucleic AcidsIBA 04/2022
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2022
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2022
1	TNF-Related Apoptosis-Inducing LigandIBA 01/2022
1	6-propylchromone-2-carboxylic acid (PCCA)IBA 01/2022
1	human ARSL proteinIBA 01/2021
1	locked nucleic acidIBA 01/2021
1	propionylcarnitineIBA 12/2020
1	HomocysteineIBA 12/2020
1	Methionine (L-Methionine)FDA Link 12/2020
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 12/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 10/2020
1	Systemic carnitine deficiencyIBA 10/2020
1	Androgen Receptors (Androgen Receptor)IBA 07/2020
1	ElementsIBA 03/2020
1	interleukin-24 (ST16)IBA 01/2020
1	Complementary DNA (cDNA)IBA 09/2019
1	N-(4-isothiocyanatophenethyl)spiperoneIBA 01/2019
1	OligodeoxyribonucleotidesIBA 11/2018
1	Transforming Growth Factor-beta Type II ReceptorIBA 09/2018
1	GonadotropinsIBA 08/2018
1	LHRH Receptors (Gonadotropin-Releasing Hormone Receptor)IBA 08/2018
1	HydrolasesIBA 07/2018
1	Valine (L-Valine)FDA Link 07/2018
1	Messenger RNA (mRNA)IBA 01/2018
1	Prostaglandins DIBA 12/2017
1	DNA Transposable Elements (Element, IS)IBA 04/2016
1	Blood Coagulation Factors (Coagulation Factor)IBA 03/2016
1	CholesterolIBA 09/2015
1	Nonsense Codon (Nonsense Mutation)IBA 07/2015
1	Succinic Acid (Succinate)IBA 06/2015
1	Hyaluronic Acid (Hyaluronan)IBA 06/2015
1	Docetaxel (Taxotere)FDA Link 06/2015
1	Genetic Markers (Genetic Marker)IBA 01/2015
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 06/2014
1	Apoptosis Regulatory ProteinsIBA 06/2011
1	DNA ProbesIBA 10/2008
1	ProdrugsIBA 12/2004

Therapy/Procedure

2	Therapeutics 01/2022 - 12/2004
1	Intravenous Infusions 01/2022
1	Intravenous Injections 01/2020
1	Ligation 05/2019
1	Transplantation 10/2018
1	Cell- and Tissue-Based Therapy (Cell Therapy) 06/2017
1	Drug Therapy (Chemotherapy) 06/2015