Results 271 to 280 of about 825,443 (336)

Clinical characteristics and gaps in palliative care among tracheostomized children: a retrospective observational study. [PDF]

J Pediatr (Rio J)
Luna LLSS, Levy SSDS, Lima LS, Duarte MDCMB.   +3 more
europepmc   +1 more source

Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang, Pengzheng Yong, Qiaomu Hu, Shaojun Du   +3 more
wiley   +1 more source

Editorial: Differential diagnosis of erythrocytosis and analysis of their clinical utility. [PDF]

Front Med (Lausanne)
Lekovic D, Sobas M, Lucijanic M.
europepmc   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Dual Disease Burden: Growing Older with Congenital Heart Disease and Hereditary Metabolic and Connective Tissue Disorders-Data from the PATHFINDER-CHD Registry on Heart Failure. [PDF]

Geriatrics (Basel)
Kaemmerer-Suleiman AS, Harig F, Freiberger A, Dewald O, Achenbach S, Akyol A, Dreher H, Engel A, Ewert P, Freilinger S, Hörer J, Hohmann C, Holdenrieder S, Pittrow RD, Kaemmerer H, Kaulitz R, Klawonn F, Meierhofer C, Montenbruck S, Nagdyman N, Neidenbach R, Ury E, Pittrow LB, Pittrow BA, von Scheidt F, Wolfrum N, Huntgeburth M, Zlatic P, Suleiman MN, Mellert F.   +29 more
europepmc   +1 more source

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

Williams-Campbell syndrome: a rare case of congenital bronchiectasis: a case report. [PDF]

Ann Med Surg (Lond)
Yadav AK, Vaidya N, Shrestha S, Yadav B, Bhandari S, Aryal R.   +5 more
europepmc   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

A 34-year-old man with tea-coloured urine. [PDF]

CMAJ
Barsanti-Innes B, Koda Y, Hsia CC, Chin-Yee B.   +3 more
europepmc   +1 more source

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