Results 31 to 40 of about 256,394 (202)

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

Iranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources

Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance [PDF]

, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease.
Roberts, Andrew G., Alexander Holme, S., Davies, Nicholas, Ead, Russell D, Ackroyd, R Simon, Simon Ackroyd, R., Whatley, Sharon D., Farr, Peter M., Anstey, Alexander V, Anstey, Alexander V., Roberts, Andrew Glyn, Whatley, Sharon D, Stewart, M. Felicity, Badminton, Michael N, Elder, George H., Farr, Peter M, Ackroyd, R. Simon, Holme, S Alexander, Elder, George H, Felicity Stewart, M., Stewart, M Felicity, Roberts, Andrew G, Lewis, Helen M, Badminton, Michael N., Lewis, Helen M., Badminton, Michael Norman, White, Marion I., Holme, S. Alexander, White, Marion I, Anstey, Alexander Vincent, Ead, Russell D.   +30 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Genealogy study of three generations of patients with bipolar mood disorder Type I

Indian Journal of Psychological Medicine, 2017
Introduction: The purpose of this research is genealogy examination of three generation of bipolar mood disorder Type I patients. Methods: Patients selected using Poisson sampling method from 100 patients with bipolar mood disorder Type I, referring to a
Bahman Salehi, Sara Khoz, Bahman Sadeghi, Manouchehr Amanat, Mona Salehi   +4 more
doaj   +1 more source

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Frontiers in Genetics, 2022
Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease.
Soojin Park, Se Song Jang, Seungbok Lee, Seungbok Lee, Minsoo Kim, Hyungtai Sim, Hyeongseok Jeon, Sung Eun Hong, Jean Lee, Jeongeun Lee, Eun Young Jeon, Jeongha Lee, Cho-Rong Lee, Soo Yeon Kim, Man Jin Kim, Man Jin Kim, Jihoon G. Yoon, Byung Chan Lim, Woo Joong Kim, Ki Joong Kim, Jung Min Ko, Anna Cho, Jin Sook Lee, Murim Choi, Jong-Hee Chae, Jong-Hee Chae   +25 more
doaj   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

The Role of Heredity and the Prevalence of Strabismus in Families with Accommodative, Partial Accommodative, and Infantile Esotropia

Türk Oftalmoloji Dergisi, 2020
Objectives:To investigate the prevalence of strabismus in families of a proband with accommodative, partial accommodative, or infantile esotropia (IET), and to evaluate the mode of inheritance and the role of consanguineous marriages in this prevalence ...
Fatma Çorak Eroğlu, Sibel Oto, Feride İffet Şahin, Yunus Terzi, Özge Özer Kaya, Mustafa Agah Tekindal   +5 more
doaj   +1 more source

First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics

Frontiers in Immunology
BackgroundChronic granulomatous disease (CGD) is an inborn error of immunity caused by genetic defects in the nicotinamide adenine dinucleotide phosphate oxidase complex, resulting in recurrent severe infections and excessive inflammatory responses.
Fatima az-Zahra Thawabteh, Sedrah Abu Rmilah, Aya Siaj, Rawan Abu khdair, Rabee Adwan, Rabee Adwan   +5 more
doaj   +1 more source