Results 171 to 180 of about 2,377 (196)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
New approaches to treating chronic obstructive pulmonary disease with Colla corii asini
Animal Models and Experimental Medicine, EarlyView.Colla corii asini improves chronic obstructive pulmonary disease (COPD) treatment through anti‐inflammatory, antioxidant, immune‐modulatory, and lung‐nourishing effects, addressing current therapeutic challenges via multitarget mechanisms. Abstract Chronic obstructive pulmonary disease (COPD) is one of the leading causes of death and disability ...
Wenchao Zhang +5 more
wiley +1 more source
Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen +16 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Transcriptome sequencing was performed on tumor tissues from triptolide‐treated tumor‐bearing mice. The sequencing results were integrated with data from public databases for comprehensive analysis, and potential regulatory targets of triptolide were identified.
Zhiwen Cao +12 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Currently, the animals commonly used to establish animal models of benign airway stenosis (BAS) include mice, rats, pigs, dogs, rabbits, and ferrets. The establishment methods involve one or a combination of two methods such as mechanical injury, tracheal cautery, cuff overpressure intubation, laser injury, and endoscopic silver nitrate cauterization ...
Wusheng Zhang +6 more
wiley +1 more source