Results 141 to 150 of about 117,358 (311)

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Congenital anterior penile isolated urethrocutaneous fistula: A case report

African Journal of Paediatric Surgery, 2008
Urethrocutaneous fistula is a common complication after hypospadias repair. If congenital, it is usually associated with other genitourinary and gastrointestinal anomalies. Isolated congenital urethral fistula is a very rare anomaly.
Rashid Kumar, Kureel Shiv, Tandon Raj
doaj  

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Dysphagia in an adult tetralogy of fallot with double aortic arch [PDF]

, 2013
Double aortic arch (DAA) is a common vascular ring. It may occur in isolation or coexist with various types of congenital heart disease . The anomaly usually presents in early infancy.
Bhan, Anil, Munesh, Tomar, Pankaj, Bhatiya   +2 more
core  

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

3 year old with chronic wet cough : Intralobar Bronchopulmonary sequestration [PDF]

, 2016
Bronchopulmonary sequestration (BPS) is a rare congenital foregut anomaly of the lung, consisting of nonfunctioning primitive tissue that does not communicate with the healthy tracheobronchial tree.
Micallef, S.P., Sammut, Patrick, DeGiovanni, Joseph V., Grech, Victor E.   +3 more
core  

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Bilateral Congenital Choanal Atresia: A Case Report

, 2011
Choanal atresia is an uncommon congenital anomaly of nose caused by failure of resorption of the bucco-pharyngeal membrane during embryonic development.
Karampal Singh, Punam Raghove, Geeta Ahlawat and Rashmi Taneja, Sarla Hooda   +3 more
core  

Pancreas divisum--radiological and clinical implications of a congenital anomaly

, 1984
Pancreas divisum is a congenital anomaly in which the ventral and dorsal parts drain separately into the duodenum. It is linked with a high incidence of pancreatitis of the dorsal part.
van der Jagt, E. J.
core   +1 more source