Temat: "Genetic Diseases, Inborn" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Autorzy:: Zhang S; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Lei C; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Wu J; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Xiao M; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Zhou J; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Zhu S; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Fu J; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Lu D; State Key Laboratory of Genetic Engineering, School of Life Science, Fudan University, Shanghai, China.; NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing, China.
Sun X; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.; Key Laboratory of Female Reproductive Endocrine Related Diseases, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
Xu C; Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.; Key Laboratory of Female Reproductive Endocrine Related Diseases, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.; Pokaż więcej
Źródło:: Clinical and translational medicine [Clin Transl Med] 2021 Jul; Vol. 11 (7), pp. e490.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*methods
Aneuploidy ; Blastocyst/cytology ; Blastocyst/metabolism ; Blastocyst/pathology ; Embryo, Mammalian/cytology ; Embryo, Mammalian/pathology ; Female ; Fertilization in Vitro ; Genetic Diseases, Inborn/genetics ; Haplotypes ; Humans ; Karyotyping ; Male ; Medical History Taking ; Pedigree ; Polymorphism, Single Nucleotide ; Preimplantation Diagnosis

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 2.

Tytuł:: Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX-02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers.
Autorzy:: Leubitz A; Eloxx Pharmaceuticals, Rehovot, Israel.
Frydman-Marom A; Eloxx Pharmaceuticals, Rehovot, Israel.
Sharpe N; Eloxx Pharmaceuticals, Waltham, MA, USA.
van Duzer J; Eloxx Pharmaceuticals, Waltham, MA, USA.
Campbell KCM; Audiology consultant to Eloxx Pharmaceuticals, Waltham, MA, USA.
Vanhoutte F; SGS Life Sciences, Clinical Pharmacology Unit, Antwerp, Belgium.; Pokaż więcej
Źródło:: Clinical pharmacology in drug development [Clin Pharmacol Drug Dev] 2019 Nov; Vol. 8 (8), pp. 984-994. Date of Electronic Publication: 2019 Jan 16.
Typ publikacji:: Clinical Trial, Phase I; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:: Furans*/administration & dosage
Furans*/adverse effects
Furans*/pharmacokinetics
Mutation*
Codon, Nonsense/*genetics
Genetic Diseases, Inborn/*genetics
Adolescent ; Adult ; Biological Availability ; Double-Blind Method ; Female ; Genetic Diseases, Inborn/drug therapy ; Healthy Volunteers ; Humans ; Injections, Intravenous ; Injections, Subcutaneous ; Male ; Maximum Tolerated Dose ; Middle Aged ; No-Observed-Adverse-Effect Level ; Ototoxicity/etiology ; Ototoxicity/prevention & control ; Young Adult

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 3.

Tytuł:: Rab and Arf proteins in genetic diseases.
Autorzy:: Seixas E; CEDOC, Faculdade de Ciências Médicas, FCM, Universidade Nova de Lisboa, 1169-056, Lisboa, Portugal.
Barros M
Seabra MC
Barral DC; Pokaż więcej
Źródło:: Traffic (Copenhagen, Denmark) [Traffic] 2013 Aug; Vol. 14 (8), pp. 871-85. Date of Electronic Publication: 2013 Apr 29.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: ADP-Ribosylation Factors/*metabolism
Genetic Diseases, Inborn/*genetics
rab GTP-Binding Proteins/*metabolism
ADP-Ribosylation Factors/genetics ; Animals ; Genetic Diseases, Inborn/etiology ; Genetic Diseases, Inborn/metabolism ; Humans ; Mutation ; Protein Transport ; rab GTP-Binding Proteins/genetics

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 4.

Tytuł:: Genotypes and allele frequencies of buried SNPs in a bovine single-nucleotide polymorphism array in Japanese Black cattle.
Autorzy:: Sasaki S; Faculty of Agriculture, University of the Ryukyus, Okinawa, Japan.
Muraki E; Hida Beef Cattle Research Department, Gifu Prefectural Livestock Research Institute, Gifu, Japan.
Inoue Y; Tottori Prefectural Livestock Research Center, Tottori, Japan.
Suezawa R; Okinawa Prefectural Livestock and Grassland Research Center, Okinawa, Japan.
Nikadori H; Okinawa Prefectural Livestock and Grassland Research Center, Okinawa, Japan.
Yoshida Y; Northern Center of Agricultural Technology, General Technological Center of Hyogo Prefecture for Agriculture, Forest and Fishery, Hyogo, Japan.
Nariai S; Shimane Prefecture Livestock Technology Center, Shimane, Japan.
Hideshima R; Shimane Prefecture Livestock Technology Center, Shimane, Japan.
Moriwaki S; Shimane Prefecture Livestock Technology Center, Shimane, Japan.
Nakashima R; Cattle Breeding Development Institute of Kagoshima Prefecture, Kagoshima, Japan.
Uchiyama K; National Livestock Breeding Center, Fukushima, Japan.
Yoshinari K; National Livestock Breeding Center, Fukushima, Japan.
Takeda M; National Livestock Breeding Center, Fukushima, Japan.
Kojima T; National Livestock Breeding Center, Fukushima, Japan.; Pokaż więcej
Źródło:: Animal science journal = Nihon chikusan Gakkaiho [Anim Sci J] 2019 Dec; Vol. 90 (12), pp. 1503-1509. Date of Electronic Publication: 2019 Oct 10.
Typ publikacji:: Journal Article
MeSH Terms:: Cattle/*genetics
Cattle Diseases/*genetics
Gene Frequency/*genetics
Genetic Diseases, Inborn/*veterinary
Polymorphism, Single Nucleotide/*genetics
Animals ; Genomics/methods ; Genotype ; Japan

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 5.

Tytuł:: Retrotransposable genetic elements causing neutrophil defects.
Autorzy:: Roos D; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
de Boer M; Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Pokaż więcej
Źródło:: European journal of clinical investigation [Eur J Clin Invest] 2018 Nov; Vol. 48 Suppl 2, pp. e12953. Date of Electronic Publication: 2018 Jun 14.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Neutrophils/*physiology
Alu Elements/genetics ; DNA Replication/genetics ; DNA Transposable Elements/genetics ; Epigenesis, Genetic/genetics ; Gene Deletion ; Genetic Diseases, Inborn/genetics ; Humans ; Long Interspersed Nucleotide Elements/genetics ; Mutagenesis, Insertional/genetics