Results 31 to 40 of about 1,143,125 (138)

PENDRED syndrome with ectopic thyroid: About a delayed diagnosis

, 2023
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of total thyroidectomy 13 years ago .And presented when aged 30 with a cervical abscess of ectopic thyroid.
Zineb Ait Si Ali, Sara Chtioui, Nawal El Ansari, Ghizlane El Mghari, Sana Rafi   +4 more
core   +1 more source

An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene

Stem Cell Research, 2020
Pendred syndrome (PDS) is hereditary and is characterized by thyroid enlargement, cochlea abnormalities, and hearing impairment. In this study, we established an induced pluripotent stem cell line from a PDS patient with familial thyroid disorder, caused
Xinsheng Chen, Yang Yang, Liqiong Luo, Lijuan Xu, Bei Liu, Gaofeng Jiang, Xiamin Hu, Yan Zeng, Zhenyu Wang   +8 more
doaj   +1 more source

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion

Nature Communications, 2016
Mutations in pendrin, a plasma membrane transporter, lead to Pendred syndrome, which is associated with hearing loss. Here, Jung et al. show that cell-surface expression of a mutated form of pendrin can be restored by blocking ER-to-Golgi traffic and ...
Jinsei Jung, Jiyoon Kim, Shin Hye Roh, Ikhyun Jun, Robert D. Sampson, Heon Yung Gee, Jae Young Choi, Min Goo Lee   +7 more
doaj   +1 more source

Quantitative analysis and correlative evaluation of video-oculography, micro-computed tomography, and histopathology in Pendrin-null mice

Neurobiology of Disease, 2023
Patients with SLC26A4 mutations exhibit highly variable hearing loss and vestibular dysfunction. Although Slc26a4 mutant mice similarly exhibit vestibular deficits, including circling behavior, head tilting, and torticollis, the underlying pathogenesis ...
Hiroki Watanabe, Taku Ito, Natsuki Aoki, Jing Bai, Keiji Honda, Yoshiyuki Kawashima, Taro Fujikawa, Takuo Ikeda, Takeshi Tsutsumi   +8 more
doaj   +1 more source

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger

Nature Communications, 2023
Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder associated with sensorineural hearing loss, hypothyroid goiter, and reduced blood pressure ...
Qianying Liu, Xiang Zhang, Hui Huang, Yuxin Chen, Fang Wang, Aihua Hao, Wuqiang Zhan, Qiyu Mao, Yuxia Hu, Lin Han, Yifang Sun, Meng Zhang, Zhimin Liu, Geng-Lin Li, Weijia Zhang, Yilai Shu, Lei Sun, Zhenguo Chen   +17 more
doaj   +1 more source

An unfortunate case of Pendred syndrome

, 2011
Objective:To report a patient with Pendred syndrome who developed life-threatening hypokalaemia as an unpredicted consequence of implant-induced imbalance and alcohol dependency, leading to multiple cardiac arrests.Setting:Addenbrooke's Hospital ...
R Gray, A Sanei-Moghaddam, T Wilson, S Kumar   +3 more
core   +1 more source

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]

Iranian Journal of Public Health, 2011
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syn­dromic HL (ARNSHL) is the most common type of hereditary HL.
MA Tabatabaiefar , F Alasti, M Montazer Zohour, L Shariati, E Farrokhi , DD Farhud , GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori   +8 more
doaj   +1 more source

Pendred syndrome--100 years of underascertainment?

, 1997
Pendred syndrome is an autosomal recessive condition classically characterized by deafness and goitre. Since both cochlear and thyroid pathology are required to secure the diagnosis, it is unclear whether the condition might present without the classical
Grossman, Ashley, Luxon, LM, Coffey, R, Reardon, W, Phelps, PD, Britton, KE, Kendall-Taylor, P, Stephens, D, Grossman, A, Trembath, R   +9 more
core   +1 more source

Endocrine glands and hearing: Auditory manifestations of various endocrine and metabolic conditions

Indian Journal of Endocrinology and Metabolism, 2017
The aetiology of hearing loss in humans is multifactorial. Besides genetic, environmental and infectious causes, several endocrine and metabolic abnormalities are associated with varying degrees of hearing impairment.
Kripa Elizabeth Cherian, Nitin Kapoor, Suma Susan Mathews, Thomas Vizhalil Paul   +3 more
doaj   +1 more source

Comprehensive analysis of syndromic hearing loss patients in Japan

Scientific Reports, 2019
More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by ...
Michie Ideura, Shin-ya Nishio, Hideaki Moteki, Yutaka Takumi, Maiko Miyagawa, Teruyuki Sato, Yumiko Kobayashi, Kenji Ohyama, Kiyoshi Oda, Takamichi Matsui, Tsukasa Ito, Hiroshi Suzumura, Kyoko Nagai, Shuji Izumi, Nobuhiro Nishiyama, Manabu Komori, Kozo Kumakawa, Hidehiko Takeda, Yoko Kishimoto, Satoshi Iwasaki, Sakiko Furutate, Kotaro Ishikawa, Masato Fujioka, Hiroshi Nakanishi, Jun Nakayama, Rie Horie, Yumi Ohta, Yasushi Naito, Mariko Kakudo, Hirofumi Sakaguchi, Yuko Kataoka, Kazuma Sugahara, Naohito Hato, Takashi Nakagawa, Nana Tsuchihashi, Yukihiko Kanda, Chiharu Kihara, Tetsuya Tono, Ikuyo Miyanohara, Akira Ganaha, Shin-ichi Usami   +40 more
doaj   +1 more source