Results 1 to 10 of about 256,394 (202)

Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene

Stem Cell Research, 2022
Alport syndrome is an inherited chronic kidney disease with genetic heterogeneity. There are three modes of inheritance: X-linked dominant inheritance, autosomal recessive inheritance, and autosomal dominant inheritance.
Gang Wang, Erzhi Gao, Hangdi Wu, Li Zhang, Yuqing Zhu, Jin Zhang, Zhihong Liu   +6 more
doaj   +1 more source

Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients

Frontiers in Pediatrics, 2023
Background and AimsThe genetic and clinical characteristics of patients with distal renal tubular acidosis (dRTA) caused by SLC4A1 mutations have not been systematically recorded before.
Mengge Yang, Mengge Yang, Qiqi Sheng, Shenghui Ge, Xinxin Song, Jianjun Dong, Congcong Guo, Congcong Guo, Lin Liao, Lin Liao, Lin Liao   +10 more
doaj   +1 more source

Hereditary tubulopathies accompanying polyuia

Regulatory Mechanisms in Biosystems, 2021
Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and ...
M. O. Ryznychuk, V. P. Pishak, N. V. Bacyuk-Ponych, O. V. Pishak   +3 more
doaj   +1 more source

Effective variant filtering and expected candidate variant yield in studies of rare human disease

npj Genomic Medicine, 2021
In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype.
Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan   +11 more
doaj   +1 more source

Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome

Heliyon, 2021
Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome.
Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu   +12 more
doaj   +1 more source

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Scientific Reports, 2020
Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have
Jin-Mo Park, Byeonghyeon Lee, Jong-Heun Kim, Seong-Yong Park, Jinhoon Yu, Un-Kyung Kim, Jin-Sung Park   +6 more
doaj   +1 more source

Hereditary tubulopathies including the associated bone disease

Regulatory Mechanisms in Biosystems, 2018
Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through ...
M. O. Ryznychuk, T. V. Khmara, M. I. Kryvchanska, I. I. Zamorskii   +3 more
doaj   +1 more source

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26

Frontiers in Neurology, 2023
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity and weakness of the lower limbs.
Ze-hua Lai, Ze-hua Lai, Xiao-ying Liu, Yuan-yue Song, Hai-yan Zhou, Li-li Zeng   +5 more
doaj   +1 more source

Educational Case: Autosomal Recessive Inheritance

Academic Pathology, 2017
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
D. Yitzchak Goldstein MD, Michael Prystowsky MD, PhD   +1 more
doaj   +1 more source

Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome

Journal of Dermatology and Dermatologic Surgery, 2019
Adams–Oliver syndrome (AOS) is a rare heterogeneous inherited disorder, characterized by the combination of the congenital scalp and terminal transverse limb defects. Various expressions of AOS have been reported.
Abdullah Abualait, Salaheldin Alfadni, Hala Edris, Mohammed Alshahrani, Mohamed Hanifa, Tariq Aziz, Wifag Alobeid, Ayed Al-Mordy   +7 more
doaj   +1 more source