Results 171 to 180 of about 92,054 (252)

Altered X-chromosome inactivation predisposes to autoimmunity. [PDF]

Sci Adv
Huret C, Ferrayé L, David A, Mohamed M, Valentin N, Charlotte F, Savignac M, Goodhardt M, Guéry JC, Rougeulle C, Morey C.   +10 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing. [PDF]

Genome Res
Gocuk SA, Lancaster J, Su S, Jolly JK, Edwards TL, Hickey DG, Ritchie ME, Blewitt ME, Ayton LN, Gouil Q.   +9 more
europepmc   +1 more source

The E‐cadherin‐Wnt‐mir‐994 Axis Repurposes a Cadherin Switch for Niche Robustness and Germline Stem Cell Maintenance

Cell Proliferation, EarlyView.
In the Drosophila ovarian niche, an E‐cadherin‐to‐N‐cadherin switch, mediated by Wnt‐mir‐994 signalling, is repurposed to ensure niche resilience. This compensatory mechanism maintains niche integrity and stem cell support upon E‐cadherin loss, revealing a robustness circuit.
Renjun Tu, Hiu Laam Yau, Runzhi Deng, Sarah E. Webb, Shiyuan Chen, Jianquan Ni, Ting Xie   +6 more
wiley   +1 more source

Altered X-chromosome inactivation of the TLR7/8 locus and heterogeneity of pDCs in systemic sclerosis. [PDF]

J Exp Med
Du Y, Faz-Lopez B, Ah Kioon MD, Cenac C, Pierides M, Lakin KS, Spiera RF, Chaumeil J, Truchetet ME, Gordon JK, Guéry JC, Barrat FJ.   +11 more
europepmc   +1 more source

Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2‐KLF4

Cell Proliferation, EarlyView.
During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Wenrui Zeng, Yuxiu Lin, Yongyan Gao, Delan Huang, Yuanyuan Li, Honglei Ruan, Guohua Yuan, Huan Liu, Zhi Chen   +8 more
wiley   +1 more source

Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation. [PDF]

Stem Cell Reports
Raposo AC, Caldas P, Jeremias J, Arez M, Cazaux Mateus F, Barbosa P, Sousa-Luís R, Água F, Oxley D, Mupo A, Eckersley-Maslin M, Casanova M, Grosso AR, da Rocha ST.   +13 more
europepmc   +1 more source

Multicentric Asynchronous Endocrine Mucin‐Producing Sweat Gland Carcinoma and Mucinous Carcinoma of the Skin

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Endocrine mucin‐producing sweat gland carcinoma (EMPSGC) is an adnexal neoplasm which typically occurs on periorbital skin and demonstrates overlapping histopathologic features with primary mucinous carcinoma of the skin (MCS). Herein, we report a patient who developed five distinct lesions of EMPSGC and MCS over an eight‐year period, some of ...
Ikuko Hirai, Joseph F. Sobanko, Tara C. Mitchell, Jacquelyn Roth, Rosalie Elenitsas, Emily Y. Chu   +5 more
wiley   +1 more source

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. [PDF]

Sci Rep
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M.   +12 more
europepmc   +1 more source