Results 221 to 230 of about 6,585,062 (339)

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity [PDF]

, 1990

openalex   +1 more source

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

Different Infection Structures and Point Mutation of Diaporthe citri Showing Resistant against Systemic Fungicides. [PDF]

Plant Pathol J
Soe ZZ, Shin YH, Jeun YC.
europepmc   +1 more source

The Q181X Point Mutation in Nf1 Induces Cerebral Vessel Stenosis. [PDF]

Neurosci Bull, 2023
Liang C, Huo L, Zhu Y, Yao Z, Wu X, Liang J.   +5 more
europepmc   +1 more source

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.

, 1991
P. Edward Purdue, Jennifer Allsop, Grazia Isaya, L E Rosenberg, Christopher J. Danpure   +4 more
openalex   +1 more source

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. [PDF]

, 1994
T. Grimm, Gerhard Meng, Sabina Liechti‐Gallati, T. Bettecken, C R Müller, B. Müller   +5 more
openalex   +1 more source

GDP‐fucose transporter SLC35C1: a potential regulatory role in cytosolic GDP‐fucose and fucosylated glycan synthesis

FEBS Open Bio, EarlyView.
The inactivation of SLC35C1 (GDP‐fucose transporter) and enzymes involved in GDP‐fucose biosynthesis was studied. Fucose supplementation increases the level of GDP‐fucose to abnormal, millimolar values in the absence of the TSTA3 protein and SLC35C1 in contrast to the GMDS/SLC35C1 double mutant.
Edyta Skurska, Mariusz Olczak
wiley   +1 more source

Single Point Mutation Abolishes Water Capture in Germacradien-4-ol Synthase. [PDF]

Chembiochem
González Requena V, Srivastava PL, Miller DJ, Allemann RK.   +3 more
europepmc   +1 more source

A point mutation in the integrin beta 3 cytoplasmic domain (S752-->P) impairs bidirectional signaling through alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) [PDF]

, 1994
YP Chen, TE O'Toole, Jari Ylänne, JP Rosa, MH Ginsberg   +4 more
openalex   +1 more source

High-Level Azithromycin Resistance Occurs in Neisseria gonorrhoeae as a Result of a Single Point Mutation in the 23S rRNA Genes

Antimicrobial Agents and Chemotherapy, 2010
S. Chisholm, J. Dave, C. Ison
semanticscholar   +1 more source