Results 51 to 60 of about 434,230 (174)

Systemic, Lifestyle and Environmental Modifying Factors in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
A variety of impacting factors in the pathogenesis of periodontitis exist, including systemic, lifestyle, and environmental factors. This review highlights the manifold mechanistic aspects of the link between the pathogenesis of periodontitis, addressing these numerous factors to supplement the long‐standing knowledge of the progression of the disease.
Sabine Elisabeth Groeger, Yuxi Zhou, Jiawen Yong, Lei Wang, Sabine Ruf, Joerg Meyle   +5 more
wiley   +1 more source

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). [PDF]

PLoS ONE, 2012
Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN.
Wei Liu, Timothy M Shaver, Alfred Balasa, M Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, Ignatia B Van den Veyver   +7 more
doaj   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, Volume 309, Issue 11, Page 3375-3396, November 2026.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum

, 2007
A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects ...
Innes, James R., Crow, Yanick J., Crow, Yanick, Bartlett, Richard J V, Pairaudeau, Peter W., Fisher, Richard B.   +5 more
core   +1 more source

Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome

Frontiers in Endocrinology, 2023
Goltz–Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs ...
Flavia Costanza, Giampaolo Papi, Giampaolo Papi, Stefania Corrado, Alfredo Pontecorvi   +4 more
doaj   +1 more source

Determination of the membrane topology of PORCN, an O-acyl transferase that modifies Wnt signalling proteins

Open Biology, 2021
Wnt gradients elicit distinct cellular responses, such as proliferation, specification, differentiation and survival in a dose-dependent manner. Porcupine (PORCN), a membrane-bound O-acyl transferase (MBOAT) that resides in the endoplasmic reticulum ...
Lisa M. Galli, Marc O. Anderson, J. Gabriel Fraley, Luis Sanchez, Raymund Bueno, David N. Hernandez, Eva U. Maddox, Vishwanath R. Lingappa, Laura W. Burrus   +8 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2211-2223, October 2026.
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, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Novel PORCN mutations in focal dermal hypoplasia

, 2009
Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi M-L, Heikkilä H, Torniainen S, Devriendt K, Fryns J-P, Marynen P, Järvelä I, Ala-Mello S. Novel PORCN mutations in focal dermal hypoplasia. Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome,
Van Esch, Hilde, Devriendt, Koenraad, Tuomi, M-L., Järvelä, I., Torniainen, S., Govaerts, K., Verbeeck, J., Heikkilä, H., Fryns, Jean-Pierre, Froyen, Guido, Marynen, Peter, Ala-Mello, S., K Devriendt, P Marynen, J Verbeeck, M-L Tuomi, J-P Fryns, I Järvelä, H Heikkilä, K Govaerts, G Froyen, S Ala-Mello, S Torniainen, H Van Esch   +23 more
core   +1 more source

PORCN mutations in focal dermal hypoplasia: coping with lethality.

, 2009
The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X ...
Francisco CR, Grzeschik KH, Happle R, Marcelis C, PATRIZI, ANNALISA, Piza Katzer H, Hamel B, Paradisi M, Lohrisch I, Nicolas ME, König A, Prager B, Loeys B, Prescott K, Janecke A, Pagliarini D, Chassaing N, Mehraein Y, Zeller MS, Piccione M, Utine GE, Benke PJ, Strien J, Ellis I, Alanay Y, Bornholdt D, Ascherman J, Heinelt K, Oeffner F, Boente Mdel C, Kastrup W, Has C, van der Burgt I, Della Giovanna P   +33 more
core   +4 more sources