Results 251 to 260 of about 59,620 (289)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Inhibition of FGFR signaling attenuates phosphaturia and early kidney injury in sickle cell disease mice. [PDF]

Biochem Biophys Rep
Hurley MM, Wang Y, Xiao L.
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Multisystem toxicity and non-cirrhotic portal hypertension linked to arsenic exposure from a traditional herbal preparation. [PDF]

Gastroenterol Rep (Oxf)
Deng Y, Zhang G, Duan W, Zhao X.
europepmc   +1 more source

Statewide agent-based model for management of chronic wasting disease in white-tailed deer: <i>PAOvCWD</i>. [PDF]

MethodsX
Wehr NH, Rosenberry CS, Stainbrook D, Staats M, Korman AL, Walter WD.   +5 more
europepmc   +1 more source

Treatment of Fibroblast Growth Factor-23-Mediated Renal Phosphate Wasting With Burosumab in a Patient With Chronic Kidney Disease 3b: A Case Report. [PDF]

Cureus
Goss CH, Earthineni G, Pasham V, Fülöp T.   +3 more
europepmc   +1 more source

Decoding the mechanistic basis of liver-muscle communication in health and disease. [PDF]

Naunyn Schmiedebergs Arch Pharmacol
Gamil NM, Elsayed HA, Salah ET, Mostafa HA, El-Shiekh RA, Ghaiad HR, Eitah HE.   +6 more
europepmc   +1 more source