Results 101 to 110 of about 73,648 (256)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

PRD-Class Homeobox Genes in Bovine Early Embryos: Function, Evolution, and Overlapping Roles. [PDF]

Mol Biol Evol, 2022
Lewin TD, Fouladi-Nashta AA, Holland PWH.   +2 more
europepmc   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Homeobox Genes in Cancers: From Carcinogenesis to Recent Therapeutic Intervention. [PDF]

Front Oncol, 2021
Feng Y, Zhang T, Wang Y, Xie M, Ji X, Luo X, Huang W, Xia L.   +7 more
europepmc   +1 more source

Imaging patterns and genetic associations of brain atrophy across distinct symptom stages in Parkinson's disease

Neuroprotection, EarlyView.
Early disease stages showed limited cortical atrophy and enrichment of synaptic and calcium signaling pathways, whereas advanced stages demonstrated widespread cortical degeneration associated with immune activation and extracellular matrix remodeling.
Yi Ji, Liujia Lu, Kaidong Chen, Ruixuan Zhang, Yao Lu, Yachen Shi, Xiangming Fang   +6 more
wiley   +1 more source

Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes. [PDF]

Sci Rep, 2023
Ajuyah P, Mayoh C, Lau LMS, Barahona P, Wong M, Chambers H, Valdes-Mora F, Senapati A, Gifford AJ, D'Arcy C, Hansford JR, Manoharan N, Nicholls W, Williams MM, Wood PJ, Cowley MJ, Tyrrell V, Haber M, Ekert PG, Ziegler DS, Khuong-Quang DA.   +20 more
europepmc   +1 more source

Lipodystrophy and adipose tissue recovery are mediated by the Wnt/lipogenesis axis during skin fibrosis

The Journal of Pathology, EarlyView.
Abstract Acquired lipodystrophy in the dermal white adipose tissue (DWAT) is an early phenotype of skin fibrosis, followed by the accumulation of extracellular matrix (ECM). Lipodystrophy syndromes are estimated to affect 1 in 20,000 people and are associated with metabolic comorbidities.
Suneeti R Madhavan, Piper Moore, Rohan Varshney, Miles Montegut, Qiannan Ma, Kayla Klatt, Reshmi Parameswaran, Elif G Ertugral, Chandrasekhar R Kothapalli, Michael C Rudolph, Radhika P Atit   +10 more
wiley   +1 more source

Meis homeobox genes control progenitor competence in the retina. [PDF]

Proc Natl Acad Sci U S A, 2021
Dupacova N, Antosova B, Paces J, Kozmik Z.   +3 more
europepmc   +1 more source

The Homeobox Gene [PDF]

Journal of Biological Chemistry, 1996
Sourindra Maiti, Jessica Doskow, Shulin Li, Ron P. Nhim, J. Suzanne Lindsey, Miles F. Wilkinson   +5 more
openaire   +1 more source

Evidence map and gap analysis of metabolic change in pediatric growth hormone deficiency treated with growth hormone

Pediatric Investigation, EarlyView.
This evidence map of 63 studies (n = 6158) showed growth hormone therapy in children with growth hormone deficiency has neutral glucose effects, mixed lipid outcomes, potential benefits for bone mineral density, bone mineral content, and parathyroid hormone, but generally no impact on thyroid function, body composition, or body mass index.
Wei Wu, Ningyi Song, Yue Zhao, Caiqi Du, Yuning Zhao, You Wu, Xiaoping Luo   +6 more
wiley   +1 more source