Results 71 to 80 of about 241,099 (281)
Congenital Ocular Abnormalities in Free-Ranging White-Tailed Deer
, 2018 Congenital ocular abnormalities in cervids have been previously reported as individual cases from various regions of the United States and include microphthalmia, anophthalmia, congenital cataracts, dermoids, and colobomata.
Lorelei L. Clarke +4 more
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Advanced Science, EarlyView.ABSTRACT The E3 ubiquitin ligase tripartite motif 27 (TRIM27) is a negative regulator of NF‐κB activation and the innate immune response, and TRIM27 deficiency significantly impairs dextran sulfate sodium (DSS)‐induced colitis. The function of TRIM27 in intestinal epithelial cells (IECs), the mechanism by which TRIM27 inhibits the NF‐κB pathway and its
Weimin Xu +10 more
wiley +1 more source
NFYB Integrates Hormonal Signals into Tissue Allometry by Promoting Protein Biosynthesis
Advanced Science, EarlyView.In the American cockroach, NFYB acts as a spatiotemporin that translates distinct hormonal cues into tissue‐specific allometry. Juvenile hormone activates NFYB in the early fat body, while 20‐hydroxyecdysone induces it in late wing pads. NFYB then promotes protein biosynthesis via core translational machinery, driving differential growth across the ...
Fangfang Liu +11 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Congenital abnormalities associated with hemivertebrae in relation to hemivertebrae location
, 2010 Numerous congenital abnormalities have been reported in association with hemivertebrae (HV). No data exist about their incidence depending on the location of the HV. From 1980 to 2003, 75 patients with 80 HV responsible for evolutive congenital scoliosis
Jouve, Jean-Luc +9 more
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35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Environmental trichlorfon and cluster of congenital abnormalities
, 1993 Of 15 live births in one Hungarian village in 1989-90, 11 (73%) were affected by congenital abnormalities and 6 were twins. Of the 11, 4 had Down syndrome.
Reis, A. +9 more
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Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Congenital Anterior Urethrocutaneous Fistula
, 2009 Purpose: Congenital anterior urethrocutaneous fistula is a rare anomaly that may present in an isolated fashion or in association with other penile abnormalities, such as chordee or hypospadias.
陳世乾 +1 more
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