Results 231 to 240 of about 145,893 (342)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Bone-on-Bone Telescopic Fixation With Step-Plate Stabilization: A Novel Approach for Enhanced Stability in LeFort I Maxillary Advancement for Cleft-Related Hypoplasia. [PDF]

Cureus
Syed MAH, Mansuri S, Mathew P, Tiwari RV, Anilkumar PV, Dixit H, Shah ND, Gupta S, Sharma M.   +8 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve. [PDF]

Cureus
Stoimenov B, Pancheva R, Pencheva V, Kolev V, Karakasheva R, Stoyanov D, Stancheva M, Tsrancheva R, Donev S, Petrova D, Yordanov V, Vasileva A, Ovnarski G, Genov D.   +13 more
europepmc   +1 more source

Unilateral pulmonary hypoplasia [PDF]

Respiratory Medicine, 2019
openaire   +2 more sources

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Transverse Sinus Hypoplasia as a Differential Diagnosis for Cerebral Vein Thrombosis: A Case Report. [PDF]

Clin Case Rep
Ashayeri H, Javanali Azar F, Vahedi H, Ranji-Amjad A, Jafarizadeh A.   +4 more
europepmc   +1 more source

Vascular etiologies of unilateral pulmonary fibrosis: Case series and literature overview. [PDF]

Radiol Case Rep
Cozzi D, Gozzi L, Cavigli E, Moroni C, Bindi A, Rosi E, Tomassetti S, Miele V.   +7 more
europepmc   +1 more source

Stressing About Stress: A Case Study Examining Dental Cortisol Concentrations in Teeth with Dental Enamel Hypoplasia

Leslie Quade, Petra Bencúrová, Miroslav Králík   +2 more
openalex   +1 more source

Neonatal Dandy-Walker syndrome: a case report. [PDF]

Front Pediatr
Yang Y.
europepmc   +1 more source