Results 51 to 60 of about 5,131 (208)

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

, 2020
Arterial tortuosity syndrome (ATS) is a recessively inherited connective tissue disorder, mainly characterized by tortuosity and aneurysm formation of the major arteries.
Barnhoorn, Sander, Beyens, Aude, Boel, Annekatrien, Burger, Joyce, Callewaert, Bert, Casteleyn, Christophe, Coucke, Paul, Descamps, Benedicte, Essers, Jeroen, Reinhardt, Dieter, Renard, Marjolijn, van der Pluijm, Ingrid, Vanhomwegen, Marine, Vanhove, Christian, Willaert, Andy   +14 more
core   +1 more source

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source

Cutis laxa: A report of two interesting cases

Indian Journal of Dermatology, 2013
Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown.
Subhabrata Mitra, Amit Kumar Agarwal, Jayanta Kumar Das, Asok Gangopadhyay   +3 more
doaj   +1 more source

Mounier‐Kuhn Syndrome Flare With Pleuritic Chest Pain: A Discussion of Complications and Management

Case Reports in Pulmonology, Volume 2026, Issue 1, 2026.
Background Mounier‐Kuhn syndrome (MKS), or tracheobronchomegaly, is a rare disorder characterized by dilation of the trachea and main bronchi due to atrophy of elastic and smooth muscle fibers. It is associated with recurrent respiratory infections, bronchiectasis, and airway collapse.
Geran Maule, Akil Augustus, Mohammad Khraisat, Jay Mehta, Elio Rodríguez Araque, Michael D. Schweitzer, Tun-Chieh Chen   +6 more
wiley   +1 more source

Anesthesia Management in Rare Case: Cutis Laxa Syndrome

Archives of Anesthesia and Critical Care, 2015
Cutis laxa is rare and hetrogenous group of disorders related to abnormalities in elastic tissue. It may be autosomal recessive, autosomal dominant, X linked or acquired.
Anahid Maleki, Alireza Ebrahim Soltani, Mehrdad Goudarzi, Amir Abbas Yaghooti, Abbas Ostad Alipour, Ebrahim Espahbodi   +5 more
doaj  

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

Emerging Roles of De Novo Proline Biosynthesis in Human Diseases

FASEB BioAdvances, Volume 7, Issue 11, November 2025.
De novo proline synthesis, a multi‐step biochemical pathway starting from glutamate, supplies essential protein building blocks. It supports redox balance, cell proliferation, signal transduction, and nucleotide and protein biosynthesis. This tightly regulated pathway, governed by conserved mechanisms, is disrupted in diseases such as cancer and ...
Ethan Pei, Junfeng Ma
wiley   +1 more source

Cutis Laxa

Indian journal of dermatology, venereology and leprology, 2017
A 20 years old male had cutis laxa manifesting as loose pendulous .skin over the face and neck giving a prematurely aged appearance.
Jayakar, Thomas, P, Krishnamurthy, T C, Muthuswami   +2 more
openaire   +3 more sources