Results 41 to 50 of about 1,143,678 (194)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

A Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.

, 2015
We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161.
Júnior, G G, Maciel-Guerra, A T, Baptista, M T, Marques-de-faria, A P   +3 more
core   +2 more sources

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

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

, 2001
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23.
Deiana M, Porcu S, Marzella R, Gasparini P, Cao A, CRISPONI, LAURA, Nicolino M, Bisceglia L, Schlessinger D, Bonneau D, Zelante L, Uda M, Verloes A, Loi A, ROCCHI, Mariano, Rocchi M, Nagaraja R, Nivelon A, Crisponi L, Pilia G., Chiappe F, Amati P, Lienhardt Roussie A, Serafina Ristaldi M, Ristaldi MS   +24 more
core   +2 more sources

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype

, 2016
We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome.
Dogan, Murat, Demir, Nihat, Kocaman, Selami, Bulut, Mehmet Deniz, Bulan, Keziban, Uner, Abdurrahman, Kaba, Sultan   +6 more
core   +1 more source

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Frontiers in Pediatrics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao   +7 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

Genome Rearrangements In Patients With Blepharophimosis, Mental Retardation And Hypothyroidism, So-called Young-simpson Syndrome

, 2015
[No abstract available]762210213Day, R., Beckett, B., Donnai, D., A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type pf Ohdo syndrome (2008) Clin Genet, 74, pp. 434-444Verloes, A., Bremond-Gignac, D., Isidor, B., Blepharophimosis-
Bernardini L., Brancati F., Romano C., Cavalcanti D.P., Novelli A., Dallapiccola B.   +5 more
core   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source