Results 171 to 180 of about 418,363 (219)

Discordant prenatal and postnatal RhD typing caused by a novel RHD frameshift variant (c.540del; p.Leu181CysfsTer48) in Swedish individuals

Vox Sanguinis, EarlyView.
Abstract Background and Objectives Non‐invasive prenatal testing (NIPT) for fetal RHD genotyping is widely used to guide anti‐D prophylaxis, but discrepancies between predicted fetal RhD status and postnatal serological typing can occur due to variant RHD alleles.
Ahlam Badri, Dan Gratschev, Tove Johansson, Agneta Wikman, Tesfai Emahazion   +4 more
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

CCGG deletion (rs201074739) in CD33 results in premature termination codon and complete loss of CD33 expression: another key variant with potential impact on response to CD33-directed agents. [PDF]

Leuk Lymphoma, 2019
Papageorgiou I, Loken MR, Brodersen LE, Gbadamosi M, Uy GL, Meshinchi S, Lamba JK.   +6 more
europepmc   +1 more source

hERG1 channels and potential therapeutics for long QT syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend Prolonged QT results from hERG1 channel dysfunction. (A) Physiological anterograde trafficking of hERG1 channels to the plasma membrane, leading to a normal electrocardiogram. (B) Prolonged QT results from the presence of fewer hERG1 channels on the plasma membrane due to decreased anterograde trafficking or reduced function due ...
Elizabeth H. Schneider, Kelly A. Aromolaran, Michael C. Sanguinetti, Ademuyiwa S. Aromolaran   +3 more
wiley   +1 more source

Structure-Activity Relationship Study of Leucyl-3-epi-deoxynegamycin for Potent Premature Termination Codon Readthrough. [PDF]

ACS Med Chem Lett, 2017
Taguchi A, Hamada K, Shiozuka M, Kobayashi M, Murakami S, Takayama K, Taniguchi A, Usui T, Matsuda R, Hayashi Y.   +9 more
europepmc   +1 more source

Clinical Laboratory Innovations: Nanoscale Detection of Chloramphenicol Using Nanomaterial Biosensors

Analytical Science Advances, Volume 7, Issue 2, December 2026.
Nanosensor schematic functionalized with specific bioreceptors that produce electrochemical signals upon Chloramphenicol binding. Resulting voltammetric readouts (differential pulse, square‐wave, and cyclic voltammetry) are analyzed to identify and quantify Chloramphenicol.
Nava Moghadasian Niaki, Reza Kheradmand, Seyedeh Giso Akbarian, Elham Shaterian, Hamed Shaterian, Ahmad Mobed   +5 more
wiley   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, Volume 16, Issue 10, Page 1925-1933, October 2026.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

SINE Insertion in LAMA3 in Dogs With Junctional Epidermolysis Bullosa

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal‐epidermal adhesion. We investigated the genetic cause of JEB in three related mixed‐breed puppies presenting with congenital skin blistering and ulceration. Whole‐genome sequencing of one affected dog followed by comparison
Sarah Kiener, Ronnie Kaufmann, Ori Brenner, Vidhya Jagannathan, Tosso Leeb   +4 more
wiley   +1 more source

Safe and Stable Germline Transmission of MSTN Mutations in Cattle

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT With the global population expected to reach 10 billion by 2050, sustainable livestock production is critical. Gene editing of the myostatin (MSTN) gene represents a promising strategy to enhance muscle growth in cattle. In this study, MSTN‐mutated founder (F0) cows were used to generate F1 offspring via ovum pick‐up, in vitro fertilization ...
Gyeong‐Min Gim, Bae Young Choi, Jeongbin Yi, Kyeong‐Hyeon Eom, Soo‐Young Yum, Dae‐Jin Jung, Do‐Yoon Kim, Bokyoung Yang, Jong‐Seo Kim, Donghwan Shim, Goo Jang   +10 more
wiley   +1 more source

ABCB1 Frameshift Deletion in Skye Terriers With Potential Pharmacogenetic Relevance

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Ivermectin‐associated neurotoxicity is a potentially life‐threatening condition caused by disruption of the ABCB1 encoded P‐glycoprotein drug transporter in certain dog breeds. Skye terriers are considered at increased risk of ivermectin toxicity despite the absence of an identified molecular cause.
Monica Nielsen, Hanne Gredal, Åsa Karlsson, Jennifer R. S. Meadows, Maja Arendt   +4 more
wiley   +1 more source