Results 31 to 40 of about 2,641 (162)

Modification of the Transcription Factor FOXL2 at Serines 101 and 107 Disables DNA Binding, Leads to Nucleolar Relocalization, and Rewires Granulosa‐Cell Programs

The FASEB Journal, Volume 40, Issue 15, 15 August 2026.
PKC‐mediated phosphorylation of FOXL2 weakens DNA binding, alters subnuclear localization and protein interactions, and reshapes FOXL2‐dependent transcriptional programs in granulosa cells, supporting a reversible mechanism that modulates FOXL2 activity through phosphorylation of its DNA‐binding domain. ABSTRACT FOXL2 is a forkhead transcription factor
Ludovic Mousseron, Despoina Chousianiti, Francis Poulat, Bérangère Legois, Reiner A. Veitia, Anne‐Laure Todeschini   +5 more
wiley   +1 more source

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

, 2016
Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome.
Ramineni, Anand, Coman, David
core   +1 more source

Syndrome de blépharophimosis: une forme particulière du ptosis congénital

The Pan African Medical Journal, 2015
Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor, Zouheir Hafidi, Mina Laghmari, Ihsane Sabrane, Olive Rosine Mastanga, Rajae Daoudi   +5 more
doaj   +1 more source

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Frontiers in Genetics, 2022
Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases.
Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang   +3 more
doaj   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

A New Method for Reconstruction the Medial Angle of the Eye Among Patients with Blepharophimosis Syndrome (Clinical Cases)

Oftalʹmologiâ
Blepharophimosis syndrome (palpebral syndrome) is a sporadic or hereditary genetic disease, manifested mainly by changes in the eyelids in the form of blepharophimosis, ptosis of the upper eyelid and reverse epicanthus.
M. G. Kataev, I. Yu. Trofimova, M. A. Zakharova   +2 more
doaj   +1 more source

Goldenhar syndrome with blepharophimosis and limb deformities: a case report

BMC Ophthalmology, 2018
Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding, Xi Wang, Yuan Cao, Jiaying Zhang, Ming Lin, Xianqun Fan, Jin Li   +6 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree [PDF]

, 2010
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Saleem, Taimur, Khalid, Mirza Umair, Chaudhry, Tanveer Anjum, Ahmad, Khabir   +3 more
core  

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging

, 2011
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal ...
Bessenyei, Beáta, Balogh, Erzsébet, Szilvássy, Judit, Oláh, Eva, Berényi, Ervin, Knegt, Alida C., Jakab, András, Köbling, Tamás, Szakszon, Katalin   +8 more
core   +1 more source