Results 71 to 80 of about 8,343 (220)

The role of Zic genes in inner ear development in the mouse: Exploring mutant mouse phenotypes [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109293/1/dvdy24186 ...
Ali, Antonelli, Arkell, Aruga, Aruga, Barratt, Blank, Braunstein, Brown, Brown, Chervenak, Ebert, Elms, Elms, Grinberg, Grinberg, Harris, Harris, Hatch, Houtmeyers, Hutson, Jerome, Kiernan, Koo, Koyabu, Liao, Lim, Lin, Mizugishi, Mizugishi, Nagai, Nichols, Nyholm, Pan, Phippard, Pourebrahim, Purcell, Puschel, Raft, Riccomagno, Riccomagno, Rohr, Sakurada, Salero, Thomsen, Torres, Vazquez-Echeverria, Vitelli, Warr, Yang   +49 more
core   +2 more sources

Deciphering the Presence of Active Interscapular Brown Adipose Tissue in Humans

Acta Physiologica, Volume 242, Issue 4, April 2026.
ABSTRACT Brown adipose tissue (BAT) is increasingly recognized as a metabolically active tissue in humans, although its physiological relevance remains incompletely understood. In rodents, BAT is well characterized, with interscapular BAT (iBAT) representing the main thermogenic depot.
Joaquin Sanchez‐Gomez, Samuel Ruiz‐Campos, Anabel Chica‐Perez, Andrés Baena‐Raya, Francisco M. Acosta, Christian Wolfrum, Patrick C. N. Rensen, Tania Romacho, Borja Martinez‐Tellez   +8 more
wiley   +1 more source

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis [PDF]

Human Molecular Genetics, 2004
Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency ...
Robert G, Kelly, Loydie A, Jerome-Majewska, Virginia E, Papaioannou   +2 more
openaire   +2 more sources

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]

, 2010
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Waldemar Bobkowski, Ryszard Slomski, Anna Latos-Bielenska, Aldona Siwinska   +13 more
core   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, Volume 109, Issue 4, Page 615-629, April 2026.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Tbx1 regulates oral epithelial adhesion and palatal development [PDF]

Human Molecular Genetics, 2012
Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate.
Noriko, Funato, Masataka, Nakamura, James A, Richardson, Deepak, Srivastava, Hiromi, Yanagisawa   +4 more
openaire   +2 more sources

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

PLoS ONE, 2014
BackgroundAlthough TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the ...
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara   +11 more
doaj   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Baldini, A, Fuchs, JC, Linden, JF, Tucker, AS   +3 more
core  

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population [PDF]

, 2015
Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD).
Bailin Wu, Chenxia Nie, Feng Zhang, Guoying Huang, Hongyan Wang, Jia Hou, Li Li, Wenyuan Duan, Xiaoli Chen, Yiming Wu, Yiping Shen, Yonghao Gui, Yu An   +12 more
core   +1 more source

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 440-445, April 2026.
ABSTRACT Background Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome‐wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders ...
Mark Ainsley Colijn
wiley   +1 more source