Khan, J. M;
Tahir, M. F;
Qamar, M. F;
Naz, S;
Rauf, M;
Noreen, R;
Ayaz, M. M;
Khan, M;
Ahmad, M;
Khurshid, U;
Saeed, S;
Iqbal, M. J;
Younas, Q. U. A;
Hameed, Y.
Naturally occurring mutations in morphogenetic protein 15 (BMP15) are associated with decreased ovulation rate (OR), litter size (LS), and sterility. It is of a great interest to elucidate BMP15 gene in Cholistani sheep breed to uplift socio-economic status and the knowledge of Cholistani sheep breeding ...
A síndrome de Reed ocorre em mulheres com múltiplos leiomiomas cutâneos e leiomiomatose uterina. Relatam-se três casos de pacientes do sexo feminino, acompanhadas em hospital universitário, com pápulas e nódulos eritêmato-acas- tanhados dolorosos em membros superiores e tórax, agravados por frio...
Anomalías Cutáneas,
Leiomiomatosis/prevención & control,
Neoplasias Uterinas,
Neoplasias Cutáneas/diagnóstico,
Leiomiomatosis/cirugía,
Neoplasias Renales/diagnóstico,
d0067850,
d0084030,
Salud de la Mujer,
Extremidades/fisiopatología,
Tórax/fisiopatología,
Mutación/genética
Abstract Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic mutations in the ASPM gene to understand et...
Galloway–Mowat syndrome (GAMOS) is a rare hereditary disease manifested as a combination of nephrotic syndrome and central nervous system impairment. To date, many GAMOS cases attributed to various gene mutations have been reported such as WHAMM, NUP107, WDR73, OSGEP, and TP53RK. We detected two novel ...
Üstay, Özlem;
Apaydın, Tugçe;
Elbasan, Onur;
Polat, Hamza;
Günhan, Gizem;
Dinçer, Ceyda;
Şeker, Lamia;
Ateş, Esra Arslan;
Yabacı, Ayşegül;
Güney, Ahmet lter;
Yavuz, Dilek Gogas.
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to ...
Central nervous system high-grade neuroepithelial tumors with BCOR alteration are rare. Currently, there are only 24 cases reported in the literature. These tumors are characterized by a change involving the BCOR gene and have a poor prognosis. Studies are needed to improve the current therapy and outcom...
Las N-terminal acetiltransferasas (NaT) son fundamentales en el desarrollo, funcionamiento y vida media celular, acetilando gran parte del proteoma humano. Entre las ocho NaT identificadas, N-terminal acetiltransferasa A (NaTA) acetila a un mayor número de sustratos, teniendo además un rol fundamental ...
Amyloidosis are characterized by mutations in the gene coding for transthyretin (TTR), located on chromosome 18. TTR is a set of four 127-aminoacid polypeptides structured as homotetrameric protein of 56 kDa with a secondary ß sheet structure. It plays the role of thyroxin (T4) carrier, and has a bindin...
La acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se ...
Diagnóstico Diferencial,
Disostosis/diagnóstico por imagen,
Disostosis/complicaciones,
Disostosis/genética,
Mutación/genética,
Osteocondrodisplasias/diagnóstico por imagen,
Osteocondrodisplasias/genética,
Osteocondrodisplasias/complicaciones,
Espirometría,
Enfermedades Pulmonares Obstructivas/complicaciones,
Disnea/complicaciones
Se describe hasta la fecha de hoy, 4 de julio del 2021, la evidencia existente sobre la variante Delta del SARS-CoV-2, su impacto en la trasmisión, en la severidad de la infección y su probable evasión a la respuesta inmune. (AU)...
