Results 251 to 260 of about 521,154 (335)

Isolation and Properties of a Homogeneous Preparation of Cystathionine Synthetase-l-Serine and l-Threonine Dehydratase

, 1965
A. Nagabhushanam, David M. Greenberg
openalex   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Optimization of Fermentation Conditions for the Production of 2,3,5-Trimethylpyrazine by Recombinant <i>Bacillus licheniformis</i>. [PDF]

Microorganisms
Liu X, Gu H, Wang H, Tang Z, Chen S, Li H, Quan W.   +6 more
europepmc   +1 more source

A point mutation in the putative ATP binding site of the pseudorabies virus US3 protein kinase prevents Bad phosphorylation and cell survival following apoptosis induction [PDF]

, 2007
Deruelle, Matthias, Favoreel, Herman, Geenen, Kristin, Nauwynck, Hans   +3 more
core   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Development of a Diastereoselective Csp²-Csp³ Cross-Coupling Reaction Inspired by Macrocyclic RiPP Natural Products. [PDF]

Org Lett
Plouch EV, Le Du E, Deville M, Bacsa J, Renata H, Blakey SB.   +5 more
europepmc   +1 more source

ets-2 is a target for an akt (Protein kinase B)/jun N-terminal kinase signaling pathway in macrophages of motheaten-viable mutant mice [PDF]

, 2000
Forsthoefel, D, Hartman, M, Hofmeister, J K, Hume, D A, Ostrowski, M C, Schaffner, A E, Smith, J L, Wei, G   +7 more
core  

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Regulation of isoleucine-valine biosynthesis in Saccharomyces cerevisiae. Altered threonine deaminase in an is-1 mutant responding to threonine.

, 1969
Aurora Brunner, A. Devillers-Mire, Huguette de Robichon-Szulmajster   +2 more
openalex  

Mutationally Altered Threonine Deaminases from a Prototrophic Revertant of Rhodopseudomonas spheroides

, 1969
P.K. Datta, Ling Lü
openalex   +1 more source