Results 81 to 90 of about 207,593 (292)

Early stages of retinal development depend on Sec13 function [PDF]

, 2013
Summary ER-to-Golgi transport of proteins destined for the extracellular space or intracellular compartments depends on the COPII vesicle coat and is constitutive in all translationally active cells.
Cavodeassi, Florencia, Feng, Yi, Schmidt, Katy, Stephens, David J   +3 more
core   +3 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Gene regulatory dynamics during craniofacial development in a carnivorous marsupial

eLife
Marsupials and placental mammals exhibit significant differences in reproductive and life history strategies. Marsupials are born highly underdeveloped after an extremely short period of gestation, leading to prioritized development of structures ...
Laura E Cook, Charles Y Feigin, John D Hills, Davide M Vespasiani, Andrew J Pask, Irene Gallego Romero   +5 more
doaj   +1 more source

Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation

Frontiers in Genetics, 2018
Objectives: Orofacial clefting is one of the most prevalent craniofacial malformations. Previous research has demonstrated that unaffected relatives of patients with non-syndromic cleft lip with/without cleft palate (NSCL/P) show distinctive facial ...
Karlijne Indencleef, Karlijne Indencleef, Jasmien Roosenboom, Hanne Hoskens, Hanne Hoskens, Julie D. White, Mark D. Shriver, Stephen Richmond, Hilde Peeters, Eleanor Feingold, Mary L. Marazita, Mary L. Marazita, John R. Shaffer, John R. Shaffer, Seth M. Weinberg, Seth M. Weinberg, Greet Hens, Peter Claes, Peter Claes   +18 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf–Hirschhorn Syndrome

Frontiers in Physiology, 2019
Wolf–Hirschhorn syndrome (WHS) is a rare developmental disorder characterized by intellectual disability and various physical malformations including craniofacial, skeletal, and cardiac defects.
Micaela Lasser, Benjamin Pratt, Connor Monahan, Seung Woo Kim, Laura Anne Lowery   +4 more
doaj   +1 more source

Dimensional Changes of Upper Airway after Rapid Maxillary Expansion: A Prospective Cone-beam Computed Tomography Study [PDF]

, 2013
Introduction: The aim of this prospective study was to use cone-beam computed tomography to assess the dimensional changes of the upper airway in orthodontic patients with maxillary constriction treated by rapid maxillary expansion.
Bosio, Jose A, Bradley, T. Gerard, Chang, Yoon Hwan, Koenig, Lisa J., Liu, Dawei, Pruszynski, Jessica E.   +5 more
core   +2 more sources

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. [PDF]

, 2017
BackgroundIn craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications ...
Bradley, James P, Dubina, Emily, Ishiyama, Akira, Lee, Justine C, Mandelbaum, Rachel S, Martins, Deborah B, Park, Sarah H, Volpicelli, Elizabeth J   +7 more
core  

A case report of Parry Romberg Syndrome initially presenting as periodontitis [PDF]

, 2018
Parry Romberg Syndrome (PRS) is a rare disorder of progressive hemifacial atrophy, involving soft tissues, fat and occasionally bone. It can co-exist with presentations of Morphea.
Bramley, Duymaz, El-Kehdy, Fayad, Gorlin, Grippaudo, Lehman, Lewkonia, Mazzeo, Miller, Saraf, Stone, Sándor, Tollefson, Yu-Feng   +14 more
core   +1 more source