Results 81 to 90 of about 1,639,589 (408)

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Classification of Manifest Huntington Disease using Vowel Distortion Measures [PDF]

arXiv, 2020
Huntington disease (HD) is a fatal autosomal dominant neurocognitive disorder that causes cognitive disturbances, neuropsychiatric symptoms, and impaired motor abilities (e.g., gait, speech, voice). Due to its progressive nature, HD treatment requires ongoing clinical monitoring of symptoms.
arxiv  

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology, 2016
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified nontruncating PKD1 mutations in approximately 30% of patients who underwent ...
Y. Hwang, J. Conklin, W. Chan, N. Roslin, Jannel Liu, N. He, Kairong Wang, J. L. Sundsbak, C. M. Heyer, M. Haider, A. Paterson, P. Harris, Y. Pei   +12 more
semanticscholar   +1 more source

Emerging Therapeutic Strategies for Hearing Loss

Advanced Therapeutics, EarlyView.
Challenges still exist in treating hearing loss in cases of severe damage to hair cells or spiral ganglion neurons. Here, a schematic diagram of cochlear sensory hair cells and auditory nerves is presented. It is found that in normal Corti organs, hair cells have upright stereocilia at the top and auditory neurons at the base. Ototoxic drugs, noise, or
Shanying Han, Tian Shen, Weiwei He, Hao Wei, Xiaolong Zhao, Wen Yang, Chuan Bu, Xinghua Tang, Yu Zhao, Jiangang Fan   +9 more
wiley   +1 more source

Autosomal Dominant Partial Epilepsy with Auditory Features

Pediatric Neurology Briefs, 2009
Auditory and language processing in 17 subjects with autosomal dominant partial epilepsy with auditory features (ADPEAF) was investigated by MRI, fMRI, and MEG and compared to 26 controls, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +5 more sources

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

American Society of Nephrology. Clinical Journal, 2016
BACKGROUND AND OBJECTIVES Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities.
Naohiro Kamiyoshi, K. Nozu, X. Fu, N. Morisada, Yoshimi Nozu, M. Ye, A. Imafuku, K. Miura, Tomohiko Yamamura, Shogo Minamikawa, A. Shono, T. Ninchoji, I. Morioka, K. Nakanishi, N. Yoshikawa, H. Kaito, K. Iijima   +16 more
semanticscholar   +1 more source